Gaucher Disease Types I, II, IIi

Lysosomes are specialized vesicles that are created by the Golgi body. Their role is to digest any worn out, excess or unwanted bodies within the cell. This could include bacteria or viruses as well as mitochondria which are no longer effective. To do this they contain an

However, there are two types of ALS, which are Sporadic ALS and Familial ALS. Sporadic ALS can happen to anyone and makes up most of 90% to 95% of cases, while Familial ALS is inherited and that's about 5% to 10% of cases. Some ailments related to the disease are Primary Lateral Sclerosis (PLS), Progressive Bulbar Palsy (PBP), and Werdnig-Hoffman disease. PLS is a slightly less severe form of ALS, but it does affect the upper body. PBP is a muscle weakness of the body, however, the lower body is affected. Werdnig-Hoffman is a spinal cord disease that affects both children and infants. For all three types, there is no treatment or cure that will slow down the progression. In support of the patients with ALS, multiple support groups have been made, and in addition, patients will donate their brain to science to further the research in finding a cure. In result, ALS isn't the only disease that poses a big issue in sports, CTE also has a notable impact.

Type III: a portion of the lower back part of the brain (cerebellum) or the brainstem extends through an abnormal

It’s important for me to know this information because it runs in my family and if people are in my situation they should want to know more too. I learned that you could exercise regularly and reduce the chances of getting this particular disease. What I find most important is that once getting this illness there is no way to get rid of it; you have to deal with it for the rest of your life. Type two is of course more serious than type one but if untreated type one can lead to type two. Watching what you eat and exercising is very essential to treating

The HEXA gene provides instruction for making part of an enzyme called beta-hexosaminidase A, which plays a very critical role in the brain and spinal cord. This enzyme is found in the lysosomes, which are the structures in cells that break down toxic substances and their job is that of a recycling center. Beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. The mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in the neutrons in the brain and also the spinal cord. Damage by the buildup of GM2 ganglioside leads to the destruction of the neurons; Causing signs and symptoms of Tay-Sachs disease.

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

Tay-Sachs disease is an autosomal recessive disease. Tay Sachs disease can be attributed to the inhibited activity of the hydrolase enzyme b-Hexosaminidase-A (HEX A). The Hex A gene is on the q arm of chromosome 15. When mutated the breakdown of ganglioside from disialotetrahexosylganglioside (GM2) to monosialodihexosylganglioside (GM3) is defective. This results in a buildup of GM2 in the lysosomes in nerve cell. These lysosomes swell in size and can rupture resulting in many neurological defects and hepatosplenomegaly. The accumulation and burst of the lysosome manifest itself in three different, but categorically similar ways depending on the type of mutation in Hex A. While many therapies are in clinical trials most of the treatment options are done just to treat the symptoms of Tay Sachs because no cure exists.

The symptoms from this disorder are weakness, trouble breathing, & usually for children death after two years. Most children died after two years after having type 1 SMA.

The actually onset of RLS occurs mostly within the second to third decade of life. Many adults who are diagnosed with RLS have experienced many symptoms before diagnosis and into the their childhood or before the age of 20. As many as 10% report that they experienced symptoms before the age of 10 (Black & Grant, 2014, pg 411). There is an increase in the amount of people who experience the symptoms and even are diagnosed after reaching the age of 60. Many of the symptoms continue to grow with age. Although, if there a genetic predisposition to RLS, the onset of symptoms might start early in childhood but will

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 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

The age of onset ranges between the ages of 30 and 49 [6]. Prior to the onset of MS, individuals are likely to begin to develop specific signs and symptoms.

I found some additional information on the treatment of Gaucher disease. In 2014 a new drug was approved for the treatment of type 1 form of Gaucher disease. The drug is called Cerdelga. It is a gelatin capsule containing eliglustat that can be taken orally. The drug works by slowing the production of fatty material to deposit in the spleen, liver and bone marrow. Studies show that Cerdelga resulted in a greater reduction in spleen volume and improvement in live volume, blood platelet count and red blood cell count. The side effects associated with Cerdelga includes: fatigue, nausea, diarrhea, back pain and upper abdominal pain.

Guacher’s is classified as a Lysosomal Storage Disease, this happens when a person lacks an enzyme that gets rid of undesirable materials within the cells. This enzyme resides in lysosomes, the sac-like structures inside the cells. They are the garbage man of the cell. They breakdown material that still can be used and dispels the one which can no longer be used. When the lysosome can no longer breakdown the waste in the cell, it can cause serious health problems to the individual. According to the National Gaucher Foundation about 1 0f 20,000 live births have Gauchers. But the FDA says 1 out of 50,000 live births or 1 out of 100,000 live births. Gauchers is an inherited disorder that is more commonly found in Ashkenazi Jews of Eastern and Central Europe

The NAGA gene codes for the production of the lysosomal enzyme alpha-N- acetylgalactosaminidase. These enzymes help in lysosomal functions such as digesting and recycling materials within the cell. In lysosomes, this enzyme helps in the breakdown of comples substances called glycolipids and glycoproteins which contain sugar molecules attached to specific proteins and fats. Specifically,alpha-N-acetylgalactosaminidase helps in the removal of a molecule called alpha-N-acetylgalactosamine from sugars present in these complexes.