Genetic Disorders: 2014

Information About Genetic Diseases

Genetic disorders or diseases are caused by mutations or abnormalities in genes. Genetic diseases are often heritable and can be occur due to a plethora of reasons, most of which are often unknown. Unfortunately we don\'t know ways to stop genetic disorders before giving birth to a child. In this article, I will give you information about different genetic diseases.

Common Genetic Disorders

Down syndrome

Down syndrome, Down\'s syndrome, or trisomy 21 is a chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. Individuals with Down syndrome tend to have a lower than average cognitive ability, often ranging from mild to moderate developmental disabilities. Many of the common physical features of Down syndrome also appear in people with a standard set of chromosomes.

Angelman Syndrome

Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15.

Cystic Fibrosis

Cystic fibrosis (CF) is an inherited disease of your mucus and sweat glands. It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. CF, an abnormal gene causes mucus to become thick and sticky. Other people have more mild disease that doesn\'t show up until they are adolescents or young adults. CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR).

Hemophilia

Hemophilia is the name of some genetic disorders which mean the body\'s inability to control bleeding. The bleeding might be exterior, if the skin is broken by a cut, scrape, or abrasion, or it can be interior, into joints, muscles, or organs which are hollow. The result can be visible on the skin or subtle (e.g., brain bleeding).

Well, above are some of the most common genetic diseases. Most of the above diseases cannot be cured but research is still going on and one day it might be possible for humans to treat such deadly diseases.

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The Role of Genetics in Attention Deficit Disorder

When asked to depict the function of Genetics when it comes to the signs of ADHD in adults you may get as many numerous answers as there are scientists answering the inquiry. Does genetics play a function in determining if a child will suffer from ADHD? The reply, so far, is that we truly cannot know for certain. Signs of ADHD don\'t follow a stern set of guidelines that can be mapped out with a cat scan or that can be exposed by a particular DNA strand. There are numerous variations of the disorder with more inattentiveness or more hyperactivity depending on the person and whilst the symptoms are alike there can be extreme variations of outcomes from patient to patient.

A study from the American Journal of Medical Genetics in 2009 followed more than 900 families from the largest genetic research of ADHD in adults, uncovering over 600,000 genetic markers and making the data public for researchers around the entire world to analyze. Whilst the study showed pretty clearly that 1 genetical marker may be associated with ADHD symptoms, the study suggests that many genes are additionally involved in those patients troubled from Attention Deficit Disorder and that every of these have individually smaller effects that lead to the patient\'s symptoms.

Yet a different study in 2010 further delved into the question of the genetical affiliation with the causes of ADHD and this research was led by Anita Thapar and her team of researchers in the Neuropsychiatric Genetic and Genomics at Cardiff University went to work. The new investigation included an analysis of 366 kids which were diagnosed with ADD/ADHD. This comparison showed the genomes of the test subjects against those of more than 1,000 control samples. Variations in the genetical make-up of these kids were the focus of the study. Here the researchers were able to point out that there was evidence that signs of ADHD show as a Neuro-developmental disorder due to similar DNA segment overlap of Copy Number Variants that were very alike with disorders such as schizophrenia and autism.

These findings with no further explanation or supporting examinations causes numerous in the Attention Deficit Disorder Community to feel troubled as this may lead numerous parents to feel as if the only answer to their child\'s challenges is prescription medications. Countless feel like support and training for parents and instructors likewise are of utmost significance in grasping how to get the person suffering from Attention Deficit Disorder to develop and be successful. Also adding issues to the assertion of genetical disorders is the issue of smoking or taking drugs during pregnancy, socio-economic conditions at a young age, household added tension due to fiscal or matrimonial situations - these might all play a function in the development of the child leading to erroneous claims by researchers.

Whatever the final solution, there is a community hell bent on locating answers to assist their admired ones who suffer from ADD as children and ADHD in adults. Whether genetic, environmental or some combo of the two the fight to discover a remedy will not end and that crusade will proceed in laboratories and homes alike for the predictable future and many new ADHD Meds are becoming accessible that aid with the ongoing fight.

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Diseases and Disorders That Can Cause Hearing Loss

If you or someone you know is suffering from hearing loss for no apparent reason, it is a good idea to check the following disorders to see if your symptoms correlate with those caused by the disease.

Treacher Collins Syndrome (TCS). Also known as Mandibulofacial Dysostosis, among other things, TCS is a rare genetic disorder that causes obvious facial distortions and abnormalities. These can include deformed or even completely missing ears, a small lower jaw, and other eye and mouth misshapenness. This is due to hypoplasia, which is the underdevelopment of the craniofacial bones. Because of the ear formation anomalies that can happen with TCS, people with the disorder may also suffer from hearing loss. For people missing ears, bone conduction hearing aids can help.

Ménière\'s Disease. Typically a disease that affects men and women between the ages of 40 and 60, Ménière\'s Disease causes vertigo and tinnitus. This tinnitus may turn into a permanent loss of hearing. The cause of the disorder itself is unknown, but suspected to be an imbalance of fluids within the inner ear. Because your sense of balance and the fluids of the ears are so tightly entwined, it is not always possible to treat the dizziness and hearing loss at the same time. Sometimes, actually, curing the vertigo can cause permanent deafness.

Mondini Syndrome. This disorder, also called Mondini Dysplasia, is like TCS in that the hearing loss is caused by a malformation. With Mondini, the cochlea of the ear may not be fully formed in its spiral shape, resulting in a flattened appearance. Mondini Dysplasia does not always cause complete deafness, and it is sometimes never detected because the person can hear normally. Sometimes, a person with Mondini might need cochlear implants in order to enhance hearing abilities.

Waardenburg Syndrome. Usually shortened to WS, Waardenburg Syndrome is a genetic disorder that results in facial abnormalities, much like TCS. A person with WS may have pigmentation problems with the hair, facial skin, and irises of the eyes, and also suffer from deafness. The hearing impairment results from the malformation of the inner ear. Hearing aids or other auditory aid devices could help a person with WS recover some hearing.

Even for people suffering from hearing loss from a genetic disorder or Ménière\'s disease, hearing aids and other hearing-enhancement devices can help restore some sense of sound. For more information on hearing loss and hearing aids, check out Hearing Planet today.

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Genetic Disorder - Thalassemia

Thalassemia is a hereditary disease. It is an autosomal recessive blood disease. Autosomal recessive pattern means both copies of the gene in each cell have mutations. Thalassemia is also known as Mediterranean anemia, Jaksch anemia or Cooley\'s anemia. This is not a single disorder but a group of defects with similar clinical effects. A group of inherited anemia, in which there is a defect in alpha or beta chains of hemoglobin. The anemia affected to the alpha chains is known as alpha thalassemia and the anemia affected to the beta chains are called beta chains. Thalassemia major is to describe homozygote and Thalassemia minor to heterozygote. The defect results in reduced rate of synthesis of one of the globin chain that makeup hemoglobin. This causes the formation of abnormal hemoglobin molecules which causes anemia, a characteristic symptom of thalassemias. Thalassemia includes different types of anemia. The severity depends up on the number of genes it affected. In this disorder the patient is unable to produce red blood cells and the reduction has to be supplemented with the transfusion of red blood cells, every 2-3 weeks to make patient healthy and to survive.

Alpha Thalassemia

It is caused by a decrease in the production of alpha globin chains due to mutation of the genes in the hemoglobin molecule. On each number sixteenth chromosome there two alpha globin chains can be seen forming a total number of four. In fetal hemoglobin which is made before birth and in hemoglobin A and hemoglobin A2 which is present after birth, the alpha chain is an important component. Alpha thalassemia in a parent can be identified mostly after the birth of an effective child. The most severe form of alpha thalassemia causes still birth. There are four types of thalassemia.

Alpha thalassemia carrier or silent carrier: Carrier is carrying the genes but does not have symptoms and there is no need of treatment for carriers. In carriers two alpha chain genes are deleted i.e. both from the same number 16 chromosome are deleted known as

‘Cis deletion\' and one each from the number 16 chromosomes are deleted known as ‘trans deletion\'. If the parents are the carriers of ‘cis deletion\', there are 25 percent of chances of having a baby with alpha thalassemia major with each pregnancy. Only by DNA analysis, the carriers of both deletions can be distinguished.

Hemoglobin H disease: This occurs when a person has only one functioning alpha chain gene, resulting in hemolytic anemia which means three alpha chain genes are deleted. Persons with this disorder are at a risk to have a child of alpha thalassemia major as they carry one number sixteen chromosome with cis deletion.

Alpha thalassemic major: This condition results in the death of the fetus in the uterus because all the four alpha chain genes are deleted here.

Hemoglobin H-constant spring: This more acute than the hemoglobin H disease. Patients have severed anemia and frequently suffer from the enlargement of spleen and other viral infections.

Alpha thalassemia is commonly found in countries like Africa, Middle East, India, South East Asia, and Southern China and in Mediterranean region. Carriers of this disease can be determined by the following tests:

(a) Complete blood change (CBC): This is the measurement of size, number and maturity of different cells in a specific volume of blood.

(b) Hemoglobin electrophoresis with A2 and F quantition: This is a lab procedure that differentiates the types of hemoglobin present in the blood.

These tests can be performed from a single blood sample. Prenatal (before birth) diagnosis can perform by taking sample from chorionic villus.

Treatment of alpha thalassemia depends on numerous factors. They are:

(a) Child\'s age, health and medical history.

(b) Seriousness of the disease.

(d) Expectation for the course of the disease.

(e) Opinion or preference from the side of the family about the treatment.

Treatment consists of daily doses of folic acid, blood transfusion, removal of spleen

Beta Thalassemia

Beta thalassemia is caused by the mutation in beta globin chains. Chromosome number 11 controls the beta protein. Two genes are needed to make beta globin protein chain. If one or both genes are mutated, the person will have beta thalassemia. If both are mutated, the condition is either beta thalassemia intermedia or beta thalassemia major. Intermedia cause moderate anemia and the major cause the severe anemia.

Beta thalassemia minor or carrier or trait: The person will be a carrier when one mutated gene is inherited and do not show any symptoms.

Beta thalassemia intermedia: This is a condition between carrier and major. These patients have hemoglobin of 7-9g/dl. The patients need blood transfusion, when their hemoglobin drops due to infection and stress on the body especially during pregnancy and leg ulcer.

Beta thalassemia major: In this condition children are normal at the time of birth but develop anemia during the first year of life. Growth failure, deformities, enlarged spleen and liver are some of the problems. This condition requires intensive medical care which includes 2-3 weekly transfusions, desferrioxamine injections for 8-12 hours at home. Transfusions can decrease the disease but the iron content increase due to transfusion may cause damage to heart, liver and endocrine systems. Associated diseases are diabetes, growth and puberty failure, early menopause and transfusion complications such as Hepatitis C, B and HIV.

For determining this disease simple blood test called hemoglobin Electrophoresis or hemoglobin A2 to understand, if it a carrier or not.

During pregnancy there are three ways to test the fetus:

(a) CVS- during 8-10 months of pregnancy.

(b) Amniocentesis- during 14-18 weeks of pregnancy.

First and third tests have a reported miscarriage rate of one out of 100 tests and second test one in 200.

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Genetic disorder damages small intestine - Celiac disease symptoms

Those suffering from Celiac disease cannot eat and digest the cake, pizza, chocolate chip cookies, and other stuffs that hold a type of protein known as gluten. When a person with Celiac disease consumes these foodstuffs, they suffer badly with various problems related to their immune system and digestion.

Gluten in common, referred to as a group of proteins that could be found in wheat, barley, rye, and grains. When he eats such food that contains gluten, their intestine suffers from severe damage. Grains are very common food that we eat almost everyday, making the gluten as the most frequently eating ingredient. When it comes about our digestive system, we must know the functions of it properly. In general, we are aware of the fact that the digestive system is the group of organs that helps us to digest whatever we eat. It absorbs the main nutrients from the food we eat, that our body requires to keep us healthy and grow.

Our digestive system has one very important part in the body called intestine. The intestine remains rowed with millions of microscopic and finger like projections named villi. Whatever nutrients our body gets is all because of the absorption through the villi. If you have celiac disease symptoms, then your body will reach to the gluten, resulting in the damage of your digestive system. Whenever you eat gluten, your small intestine will slowly damage your small intestine and will also disrupt the absorption of nutrients from the food you eat.

Gluten is mainly found in foods, but also you can get gluten in daily products like vitamins, lip balms, and medicines. So the only option left for those suffering from celiac disease is by not consuming food that contains gluten. The proper functioning of the immune system and the villi is very important. Villi actually absorb the nutrients from food, which is done through the walls of the small intestine and then it transfer them to the bloodstream. If villi is not healthy, then the person becomes malnourished even if he eat much more food.

There are two important things to understand in celiac disease symptoms. One is that the disease do not let the villi absorb nutrients, and the other is the reaction of gluten in the immune system. The celiac disease also has some more names like nontropical sprue, celiac sprue, and gluten sensitive enteropathy. Well, you should know that the celiac disease symptoms is a genetic disorder that runs in families. So better, you get it checked if any symptoms you feel and overcome from the same.

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Defeat Genetic disorders with Ayurveda

Genetic disorders are incurable or atleast considered difficult to cure. These ailments have roots in the chromosomes that contain blue prints of cellular functions. A chromosome is genetic material within the nucleus of a cell. Damage to the nucleus prevents the cell from behaving normally. A genetic disorder is an illness caused by abnormalities in genes or chromosomes. Genes are inherited as units, with parents dividing out their genes to their offspring. You can think of this process like mixing two hands of cards, shuffling them, and then dealing them out again. An egg then joins with a sperm to give a child with a new set of genes.

The disease according to ayurveda is lack of equilibrium of dosha, agnis, dhatus and malas. Disease results from biological system failure. The human diseases are classified in to several categories such as (i) Adibalapravitta due to Beeja dosha (defective genes) of parents; (ii) Janambalapravitta due to unfulfilled desires and poor nutritional status of mother. If during pregnancy the vata dosha becomes imbalanced, the fetus might suffer from various deformities like kyphosis (hunchback), blindness and dwarfism. The increased pitta might cause alopecia and yellowish pigmentation of skin and aggravated kapha might cause albinism.; (iii) Doshabalapravritta (constitutional) due to any kind of imbalance in the three doshas and three gunas that further results in disturbance in the diet and behaviour The constitutional disorders are of two types: somatic (Sharirika) & psychic (Manasika).; (iv) Sanghatabalapravritta (traumatic) due to any trauma or stress; (v) Kalabalapravritta due to various seasonal changes; (vi) Daivabalapravritta (infectious and spiritual) due to invisible forces of the nature. These infectious and spiritual diseases can also be contacted through sexual & physical relationships. These diseases can also be a result of jealousy and negative thoughts occupying ones mind.; and (vii) Swabhavbalapravritta (natural) due to functional, organic and natural changes in the body. According to Ayurveda even the healthiest person suffers from natural weakness and diseases like hunger, thirst, sleep, death and weakness with the age.

There are a number of diseases that are caused by defects in genes important for the formation and function of muscles, and connective tissues. (Connective tissue is a broad term that includes bones, cartilage and tendons.) Two diseases that originate through a defect in the muscle cells themselves are Duchenne muscular dystrophy (DMD) and myotonic dystrophy. DMD involves a defect in the cytoskeletal protein, dystrophin, which is important for maintaining cell structure. Dystrophin is required inside muscle cells for structural support; it is thought to strengthen muscle cells by anchoring elements of the internal cytoskeleton to the surface membrane. Without it, the cell membrane becomes permeable, so that extracellular components enter the cell, increasing the internal pressure until the muscle cell 'explodes' and dies. The subsequent immune response can add to the damage. Myotonic dystrophy is an inherited disorder in which the muscles contract but have decreasing power to relax. With this condition, the muscles also become weak and waste away. Myotonic dystrophy can cause mental deficiency, hair loss and cataracts. Onset of this rare disorder commonly occurs during young adulthood. However, it can occur at any age and is extremely variable in degree of severity.

The sequence of the human genome is providing us with the first holistic view of our genetic heritage. The 46 human chromosomes (22 pairs of autosomal chromosomes and 2 sex chromosomes) between them house almost 3 billion base pairs of DNA that contains about 30,000 - 40,000 protein-coding genes. Most of the genetic disorders are the direct result of a mutation in one gene. But what are the forces beyond our genetic mutation? This will be a fundamental quest in future biomedical research.

Ayurveda is basically a preventative healing for lasting well being and equiped with unique remedies, detox and rejuvenation therapies. The ayurvedic treatment consists of four basic forms- phyto- therapy, panchakarma procedures psychotherapy using yogic and dietary support. The purpose of Ayurveda is to promote balance and equilibrium in every level of life, from Beeja shakti (? Genes) to Koshanu (Cells) and Dhatus (Tissues). One of the most important relationships, where balance is desirable, is between our body and the life style including food and drinks. Ayurveda recognises food (eating, drinking and digestion) as being central to health. Ayurveda sees food and digestion as the major factor in creating balance or imbalance in the body.

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Common Health and Genetic Disorders in Rottweilers

Rottweilers: these dogs may look pretty tough, stocky and powerful from the outside but when it comes to health problems they sure may have their own sets of problems. For this reason, it cannot be repeated enough the importance of purchasing Rottweiler dogs from reputable breeders that test their breeding specimens for hereditary disorders. Breeding specimens that test positive to any hereditary disorders are therefore eliminated from the breeding pool. This significantly lowers the chances of encountering any genetic disorders.

Common Health Problems in Rottweiler Dogs

Orthopedic Disorders

-Hip Dysplasia

This genetic disorder is a common occurrence in large and giant dog breeds. It tends to occur when the hip bone and socket bones do not adhere as they are supposed to causing severe pain and debilitation. Responsible dog breeders will only breed their breeding dog specimens after they have received clearance for OFA, the Orthopedic Foundation for Animals. Diagnosis is obtained after reviewing hip x-rays and classifying the hips under the following categories: Excellent,Good, Fair, Borderline, Mild Dysplasia, Moderate Dysplasia or Severe Dysplasia.

-Elbow Dysplasia

Elbow dysplasia is a malformation of the elbow. Just as hip dysplasia, OFA can certify dogs for elbow dysplasia on a pass or fail basis. Responsible breeders will test their breeding specimens for this disorer as well.

-Osteocondrosis Dissecans (OCD)

This is a disease that affects the bone cartilage of growing dogs causing symptoms similar to arthritis. Multiple joints are affected the most common ones being the shoulder and elbow followed by elbow, hock and knee. The causes may be various ranging from genetics, rapid growth as seen in large breeds, hormone imbalances, and nutrition.

-Panosteitis

Also known as growing pains, pano is a disorder affecting large breed dogs for even 18 months. The causes are unknown however, there may be chances it ca be due to genetics, nutrition, or even bacteria. Affected dogs develop lameness that typically shifts from one leg to the other.occasionally dogs may also develop a fever.

Other non Orthopedic Conditions

-Bloat

As any other deep chested dogs, Rottweilers may be prone to developing bloat, a life threatening condition where the stomach swells due to the presence of gas and/or fluids. Dogs may develop bloat from over eating, drinking water after strenuous exercise or after eating or eating after vigorous exercise. Affected dogs will pace, retch without being able to vomit, drool and appear restless. This is a medical emergency where time is of the essence.

-Von Willebrand Disease

This disease is hereditary and is somehow similar to hemophilia experienced in humans. However, unlike hemophilia it is not sex linked and may affect both sexes. Because this disease affects the blood's ability to clot properly, affected dogs will experience prolonged and significant bleeding even after minimal trauma such as a broken toe nail.

-Sub Aortic Stenosis

This is a cardiac problem problem which has a genetic link. Responsible breeders are also working on preventing such disorder from happening. The disorder is due to a structural defect where there is additional tissue that prevents the heart from pumping the blood as it is supposed to, therefore working harder than necessary.

-Hypothyroidism

In other words, affected dogs have low thyroid levels causing a variety of symptoms such as being lethargic, loss of energy, a dull coat with thinning hair a irregular heat cycles in females. The condition is corrected with thyroid medication.

-Eye Disorders

Entropian and Ectropian are both defects of the eyelids either rolling inward or rolling outward. Other conditions are Progressive Retinal Atrophy and Cataracts. Board certified ophthalmologists can screen for genetic eye disorders and the dogs free of hereditary eye disorders can be registered with the Canine Eye Registry Foundation (CERF).

-Cancer

Unfortunately bone cancer (osteosarcomas) are becoming common in this breed. There are studies suggesting a link between spaying and neutering at an early age and the incidence of bone cancer.

As seen Rottweilers may be prone to a variety of disorders.However, the chances of such disorders may be reduced greatly by staying away from back yard breeder newspaper ads and resorting to responsible qualified breeders only that offer health certificates. The Rottweiler's life expectancy ranges between 10 -12 years of age.

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Common Human Diseases That Are Caused by Genetic Disorders

Although all the diseases are not caused by bacteria or viruses but many develop because of our genes that is our genes are responsible for many acquired and acute diseases.Information about various diseases can be taken from medical applications,medical animations and disease movies.

Let\'s first understand what genetic disorders are.Environmental and genetic factors are responsible for the development of the disease.Genetic disorders are caused by abnormalities in an individual\'s genetic material known as genome.The genetic disorders can be classified into four types.

• Single-gene

• Multifactorial

• Chromosomal

• Mitochondrial

Single-gene disorders are also known as Mend Elian or monogenic.These disorders are caused by changes or mutations that occur in the DNA sequence of a gene. Genes perform many life functions and are responsible for making the majority of cellular structures.When it is required that the protein product of the gene can no longer perform its normal functions then the genetic mutation takes place.Some single gene disorders are cystic fibrosis,sickle cell anemia,Marfan syndrome,Huntington\'s disease and hereditary hemochromatosis.

Multifactorial genetic disorders are caused by combination of environmental factors and multiple gene mutation.Some of the most common chronic disorders are multifactorial for example heart disease,high blood pressure,Alzheimer\'s disease,arthritis,diabetes,cancer and obesity.It is also associated with heritable traits such as height,eye color,skin color,patter of fingerprints etc.

In chromosomal disorders,the distinct structures,which are made up of DNA and protein are located on each cell of the nucleus.Chromosomes carry genetic material.Any abnormality in chromosome structure such as extra copies,rejoining (translocation) etc. can result in the disease.Down syndrome is a common disorder caused by this.

Mitochondrial is a rare type of genetic disorder.It is caused by mutations in the no chromosomal DNA of the mitochondria.Mitochondria are involved in the cellular respiration and these are found in the cytoplasm of plants and animal cells.Mitochondria may contain 5 to 10 pieces of DNA.

The normal function of gene is to encode a protein.Genes are not made up to cause diseases while genetic diseases are caused by any abnormality in the genes.Disorders occur due to malfunctioning in them.

More information about the diseases can be obtained with the help of medical application,medical animation and disease movies. These are extremely useful in getting thorough information and also help to spread information about the diseases.The precautions and preventions are also described in a very entertaining way which is quite easy to grasp.

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Narcolepsy Genetic Disorder - Influencing Genes

Narcolepsy is classified as a chronic sleep disorder that interferes and disrupts the usual sleep-wake cycle. Narcolepsy can affect people of all ages; however it often first appears in adolescence.

There are many symptoms of narcolepsy which include excessive daytime sleepiness. People who suffer from narcolepsy genetic disorder may feel very tired all day as a result they may often feel like going to sleep during the day. Affected individuals can also suffer from 'Sleep attacks' which can occur during unusual times such as during a conversation or during eating a meal.

A 'Sleep attack' can vary in duration and may last for a few minutes or over an hour.

One more commonality of narcolepsy genetic disorder is a reduction in muscle tone which is usually as a result of strong emotions like surprise, laughing or anger. This extreme muscle weakness may lead to the affected person falling over which may lead to injury.

Narcolepsy also disturbs sleep at night; many sufferers will have difficulty sleeping more than 3 hours or so. During the process of falling asleep or waking up them will often experience vivid hallucinations.People who suffer from this condition may often have vivid and scary dreams which may result in them moving a lot in bed or shouting out in their sleep.

It is also common for people who suffer from narcolepsy to have an experience of sleep paralysis. This means that they will unable to speak or move during the process of getting to sleep or waking up.When combined hallucinations, sleep paralysis and vivid dreams may be upsetting and frightening for the affected individual.Research has found that narcolepsy affects around 1 in every 2,000 people living in the United States of America. However some people only have mild symptoms so the condition is likely to be under-diagnosed. It has been found that Japan has the highest rate of narcolepsy as it affects around 1 in every 600 people.

It has been found that narcolepsy is caused by both genetic and environmental factors.

In some narcolepsy cases genetic disorder sleep abnormalities has been found to be as a result of a loss of very specific brain cells called neurons in the area of the brain the hypothalamus.

The brain cells in question are responsible for producing chemicals called Hypo cretins which have important functions in our body. It is in fact these chemicals which control our sleep-wake cycle.Research has found that changes in many genes may influence the likelihood of an particular person developing narcolepsy.

The human leukocyte antigen (HLA) complex is a family of genes that contains the gene HLA-DQB1. This gene is responsible for helping our immune system know our own body\'s proteins from that of invading substances such as bacteria and viruses.The HLA-DQB1 gene has a variation know as HLA-DQB1*06:02 which has been strongly linked with narcolepsy and it has been found that most people who suffer from narcolepsy possess the HLA-DQB1*06:02 variation.

However it not yet completely known how these changes in genes influence the risk of an individual developing narcolepsy genetic disorder.

Article Source: http://www.articlesbase.com/sleep-articles/narcolepsy-genetic-disorder-influencing-genes-5578125.html

Author: Daniel Tukavkin

About the Author

If you would like to learn more about Modavigil as a treatment for narcolepsy and cataplexy go to BuyModavigil.com to access your free information on modavigil including revealing reports on its effects, costs and more.

Human Genetics and Genetic Disorders

Human genetics is the basis of the inheritance in human beings. Encompassing a wide variety of overlapping fields that include classical genetics, molecular genetics, extogenetics, and multiple other types of genetics, it is a very important aspect of biological science.

Usually the behavioral pattern in human beings is determined on the basis of genetic factors. Genes are the basic factors that influence the physique as well as psychology of a person. That is reflected in their behavioral patterns. Moreover the study of genes could be very useful in determining the answer to certain questions relating to human anatomy and psychology. At times the detection of diseases is also dependent on the genes. It has been scientifically established that many critical diseases like the diabetes often have genetic basis.

Genetic disorders can create problems for the people in their subsequent lives. Medical science usually depends a lot on finding the genetic orders so that the disorders can be determined and treated. One of the basic genetics is Trisomy 18, also known as the Edward\'s syndrome. It is one of the conditions that results from the extra genetic materials.

A major chromosomal disorder in human anatomy, Trisomy 18 is characterized by physical and intellectual features. Babies with trisomy 18 often display the signs and symptoms like low birth weight, very small head, heart defects, clenched hands, and also kidney problems. Intensity of disorder may vary from person to person.

Worldwide influence of trisomy 18 has been estimated at over 5000 live births. Majority of the babies that suffer from this disorder are from fair sex. Unfortunately, complications arising out of these disorders of human genetics are often fatal and cause much death in the process. Most of the babies that are born with trisomy 18 die within a few weeks of birth.

Basic feature of human anatomy is such that it has two sets of chromosome 18 in each of the somatic cells. However people suffering from Trisomy 18 have three such somatic cell copies. Extra chromosome affects both health as well as development of the body. In result the signs of the genetic disorder like trisomy 18. It is rare that tirsomy 18 is present in only some body cells but not in other. This only happens with few lucky people who are suffering from not full but partial trisomy. Such disease may not be fatal.

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Author: kelly price

About the Author

jrank.org is the copy and paste website friendly search engine that offers the web surfer ample scope to find out all relevant sites at the shortest time span. Naturally the viewer\'s search for out of the ordinary topics like human genetics and genetic disorder becomes convenient.