A Brief Note On Fabry Disease

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

2014). There has also been observed phenotypic heterogeneity among common mutations that ware documented within families, this despite specific phenotypes being associated with those known mutations (Zou et al. 2014). The study performed concludes that EOAD is a highly heritable disease, though not necessarily a polygenic disease like it was originally thought (Wingo et a2012). Due to the high heritability rate found in the study, from 92-100%, it is deduced that EOAD is almost completely based within genetic factors. In the Wingo et al. (2012) study, a concordance of less than 10% was found between parent and their offspring, thus suggesting that EOAD is caused by a single autosomal recessive locus. An explanation for this given is that about 10% is due to the autosomal dominant, while the rest of the cases are either a recessive allele at a single locus or smaller number of loci that presents in women but has less penetrance in males (Wingo et al.

Familial Dysautonmia is a genetic disorder. A genetic disorder is a disorder that is passed down to you from your parents. For example, when both your parents have brown eyes, so do you! Familial Dysautonmia is similar. It disturbs your automatic nervous system, which is what your body does without you controlling it (Digestion, breathing, tear production, blood pressure, taste, pain, heat, cold, and body temperature).

Gaucher disease (GD) is an inherited gene that stops glucocerebroside (type of lipid) to be broken down correctly. When this lipid cannot be broken down, buildups appear in the liver, spleen, and bone marrow which affects normal functioning. These organs begin to grow to an irregular size, amenia becomes present within the patient, and easy bruising appears due to the decrease in blood platelets. Gaucher disease is created during an autosomal recessive pattern, which means that two genes have a mutation, which causes the disorder. Normally, if a child is born with this disease, both parents carry one copy of the mutated gene. The gene that the mutation appears in is the GBA gene. GBA is located in chromosome one. The GBA gene is in charge of creating the instructions for producing an enzyme called beta-glucocerebrosidase. This enzyme breaks down the glucocerebroside into glucose and ceramide (a simpler fat molecule). When mutations appear in the GBA gene, the activity of the beta-glucocerebrosidase is reduced abundantly. Without this important breaking down of the

Fabry Disease occurs due to a disorder in the lysosomes. Lysosomes typically serve as recycling centers within cells; they contain enzymes to digest several different molecules. In Fabry Disease, the affected individual has a mutation in the GLA gene. The GLA gene provides code to produce alpha-galactosidase A. Alpha-galactosidase A is an active enzyme in lysosomes to break down globotriaosylceramide, a fat consisting three sugars attached to a fatty substance. The mutation in the GLA gene can cause an absence or decrease in the amount of alpha-galactosidase A produced. This change in the amount of enzyme produced prevents breakdown of the fat effectively and the fat begins to build up in excess inside the cells. The accumulation of globotriaosylceramide then damages cells and leads to the symptoms seen in Fabry Disease.

This lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an individual displaying the physical and developmental symptoms specific to this syndrome. Most males and about half of females with a full gene mutation have characteristics such as a narrow face, large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low muscle tone due to associated problems with connective tissues (National Library of Medicine, 2014). Males tend to have a mild to moderate intellectual disability, while only one-third of affected females are intellectually disabled (National Library of Medicine). Individuals also suffer from behavioral problems that include things such attention-deficit/hyperactivity disorders, obsessive-compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays, aggressive and self-injurious behavior related to difficult temperament, and features of autism spectrum disorders like hand-flapping and poor eye contact (Hersh & Saul,

Each of the three types of Gaucher Disease affect many systems of the body. Type I of the disease, which is the most mild form and is most frequently seen, is the only form of Gaucher which does not affect the nervous system. Typically, the average age of onset for Type I Gaucher is 21 years (6) . Approximately 1 in 10 Ashkenazi Jews is heterozygous for type I. Although the condition is non-neuronopathic, patients can exhibit a wide array of symptoms ranging from increased spleen and liver volume, lung compression, a variety of bone problems including lesions, bone tissue death and pain, and anemia and easy bruising. Individuals with Type I Gaucher Disease typically have a life span of 6 to 80 years (5) . Within families, the severity of Type I of the condition varies immensely, thereby making it impossible to determine which family members will suffer from the most severe symptoms. Gaucher Disease is different from most other autosomal recessive conditions in that one of the nonfunctional glucocerebrosidase genes (which are characteristic of Gaucher Disease) is passed o1n to each of the patient's offspring, causing them all to be carriers. Among Ashkenazi Jews, it has been presumed that around 1 in 450 Ashkenazi Jews has two mutated copies of the glucocerebrosidase gene (4) .

McCune-Albright syndrome (MAS) is a disorder caused by a non-inherited mutation of GNAS1 gene. Clinical manifestations of the disorder include one or more of the following: (1) polyostotic fibrous dysplasia (PFD), (2) café-au-lait skin pigmentation, and (3) endocrine hyperfunction, usually early puberty in girls but also may include other endocrine abnormalities like pituitary gigantism and Cushing syndrome. It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. Prognosis is good if it is diagnosed and treated promptly. Most mortality is associated with PFD. Diagnosis may include hormone level monitoring, imaging and GNAS1 genetic testing. Treatment is dictated by the tissues

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed.

Fabry disease is an inherited disorder which is caused from abnormal deposit of globotriaosylceramide, a particular fatty substance, in blood vessel walls throughout the body. Some symptoms that may be noticed are pain in the hands and feet, small red spots normally found between belly and knees, cloudy vision, hearing loss, ringing in the ears, and a decreased ability to sweat. The only FDA approved treatment for this disease is enzyme replacement therapy (ERT). This replaces the enzyme that is not working correctly, which allows the body to break down fatty substances the way it should. This disease is passed down through genes from parents. You either were born without alpha-galactosidase A or it doesn’t perform its duty.

Although, chromosome 17 contains multiple genes and each cell contributes to the condition. The loss of the RAI1 gene is considered to be the main source of the syndrome. It has also been seen in a small percentage of the affected that rather than a full deletion of the RAI1 gene, they have minor mutations within the gene that cause variations of the disease. Provided that many individuals with just minor mutations may experience some of these symptoms; they are less likely to show some of the physical attributes that come alongside the full deletion of the RAI1

The disorder I am researching is called diabetes, it doesn't have any other name.Diabetes affects both females and males. This disorder is genetic because it is in their chromosomes. It's passed from parents to offspring by the chromosomes the parents pass.

In order to distinguish between primary and secondary FSGS, disease presentation and associated medical conditions are very helpful. Suggestive of secondary FSGS are conditions, such as infections, hypertension and obesity, as well as proteinuria that is within nephrotic range, but not accompanied by full blown nephrotic syndrome. Moreover, patients with secondary FSGS will tend to have gradually increasing amounts of protein in the urine. Hence, it is important to find out if the onset of the disease was sudden or subtle with gradual

(Bailey, 2017) Had recently claimed that sex linked genetic diseases affect males more than females. If a trait of a human is sex-linked, it tends to be found only among males or only among females. This means that a sex-linked disease is any illness or abnormal condition that is determined by the sex chromosomes or by a defective gene on a sex chromosome. A broad research question, “how many sex-linked diseases affect males more than females?” was developed based on the initial claim. This was further refined to study a specific disease, which was decided on to be x-linked agammaglobulinemia, as this would narrow research and to gain further insight into how some sex-linked diseases can be extremely severe. Therefore, this essay proposes the following research question “does X-linked agammaglobulinemia exclusively occur in males?”