Fabry Artery Disease

This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two

In Canada and most other countries arteriosclerosis is the leading cause of death and illness, strokes and heart attacks due to arteriosclerosis are responsible for more deaths than all other causes combined

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.

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.

Gaucher disease is an autosomal recessive disease that occurs in about 1 in 20,000 births. It is one of the highest prevailing Lysosomal Storage Disorders and it involves many organs including but not limited to the spleen, liver, brain, lungs and bone marrow. In the lysosomes part of the cell the enzyme glucocerebroside does not work properly allowing it to build up toxic levels in the various different organs. It is an inherited genetic disorder so in order for a child to be born with it, both parents must give the child a copy of the mutated gene. It was first discovered by Dr. Philippe Gaucher in 1882, hence the name Gaucher disease.

The Gauchers’ disease is described as the metabolism error that leads to the defect on the enzymes. This disease occurs during birth and the most common genetic disease among the Ashekenazi Jews. The disease leads to the weakening of the bones, anemia, platelet deficiency and enlarged spleen.

The human body is a highly complex system of organs that operates efficiently at a cellular level to ensure proper functionality and longevity of the human race. However, even the slightest changes to its operation can lead to complications. In order to better understand the human body and how it works; an understanding of the diseases it is susceptible to is necessary. The cardiovascular system, in particular, is vulnerable to debilitating disease such as aneurysms, which is a ballooning of a blood vessel, or even an embolism (when any foreign body enters the blood stream). Blood vessels include arteries, capillaries and veins and therefore these events can occur anywhere in the body (i.e. the heart or the brain). There are different types of aneurysms including saccular, fusiform and pseudo-aneurysms. Saccular aneurysms only develop on part of the vessel wall and are spherical in shape. Fusiform aneurysms are ovoid in shape and develop over the entire vessel cross section. Pseudo-aneurysms are not true aneurysms but they occur as a result of a tear in the vessel wall thus collecting the blood pooled by extravascular tissue (Group). The exact cause of an aneurysm is not known but is correlated with certain previous existing conditions. Existing conditions that may have an effect on the development of an aneurysm are inherited predispositions to this disease, lifestyles, and high blood pressure. Some individuals are predisposed to developing aneurysms if their blood

Fabry disease is a rare genetic disorder. A gene defect (mutation) alters a protein, called an enzyme, that normally breaks down a particular fat (globotriaosylceramide). The mutation keeps the enzyme from breaking down the fat. This causes excess fat to build up in the blood vessels (vasculature) of many organs of the body. Over time, this results in less blood flow and fewer nutrients getting to the body's organs. The buildup can also wear away at nerve fibers. That causes pain and other symptoms. The areas most often affected are the hands and feet, skin, eyes, and digestive system. Eventually the fatty deposits can affect your cardiovascular system, nervous system, and kidneys. This can cause a heart attack, stroke, kidney

The great majority of all cases of Alexander Disease (infantile, juvenile and adult) are caused by a defect in a specific gene called GFAP, which stands for Glial Fibrillary Acidic Protein. GFAP is an intermediate filament protein

Arteriosclerosis is the buildup of fats, cholesterol, and other substances that cause arterial walls to become less elastic and more narrow. Arteriosclerosis often has no symptoms, but if the buildup of plaques becomes severe enough, a blood clot could be triggered causing a heart attack or stroke.

The best one was the twitcher mouse model which occurring human krabbe disease that is caused by a mutation in galactocerebrosidase gene. Mutation analysis of the human GALC gene was facilitated by the cloning and sequencing of GALC cDNA (5). Mutation analysis of the human GALC gene was facilitated by the cloning and sequencing of GALC cDNA . This allowed DNA obtained from Krabbe affected people to be sequenced and analysed against the normal GALC gene. To date there have been over forty mutations identified that cause the galactosylceramidase deficiency of Krabbe disease .The most common mutation in the European population is a 30kb deletion which is associated with a C to T transversion at cDNA position 502. The large 30kb deletion affects the production of galactosylceramidase since it removes a significant portion of the enzyme coding region. This results in the cancellation of 5 amino acids and the insertion of 2 amino acids which impacts on the quaternary structure of the

Peripheral artery disease (PAD) is considered as a clinical manifestation of systemic atherosclerosis affecting primarily the blood supply to the lower extremities, but other noncardiac and non-intracranial arteries may also be involved. More than 200 million individuals worldwide are estimated to have diagnosed PAD and the prevalence continues to rise. In Europe and North America, an estimated 27 million people have PAD and around 413,000 annual hospital admissions are attributed to PAD. Due to an imbalance between the supply and demand for blood flow, patients with PAD most commonly experience exertional leg pain (intermittent claudication), which is triggered by ambulation and relieved by rest. The severity of the symptoms depends upon

Friedreich’s ataxia (FRDA) is an inherited disease named after Nikolaus Friedreich, who first described the disease in 1863 (National Ataxia Foundation, 2013). FRDA is autosomal recessive, meaning an individual only develops symptoms if there is a deficiency in both Frataxin genes. An individual with a deficiency in only one Frataxin gene is said to be a carrier and will not exhibit symptoms. FRDA affects the coordination of human’s movements. The disease affects the central nervous system, mainly the spinal cord and nerves that control muscle movement in the arms and legs. The disease is caused by a deficiency in the frataxin expression (Medline Plus, 2014). Symptoms of this disease normally occur between the ages of 5 and 15; and include difficulty walking, muscle weakness, speech problems, involuntary eye movements, scoliosis, and heart palpations. Individuals with this disease eventually have to use a wheelchair. At this point in time there is no cure for FRDA, except for treatment with medicines, braces, surgery, and physical therapy.

Anderson-Fabry disease, commonly known as Fabry’s disease is an X linked lysosomal storage disorder, specifically a deficiency in lysosomal enzyme alpha-galactosidase A