Case Study Of Gaucher's Disease

Gaucher’s disease if you haven’t heard of it already is a metabolic disorder one of the most common for lysosomal diseases and it is inherited. It can also be carried and not known by the individual, a carrier only has a single gene mutation that is associated with the disorder. In order actually have Gaucher’s diseases an individual must have two mutations in the GBA gene; one from each parent. Gaucher’s is when the metabolism and storage of fats is irregular; this can be quite harmful due to the fact that there is a deficiency of the enzyme glucocerebroside (GBA) which is located on chromosome 1q21 and encompasses 11 exons. Which an individual’s body will not break down or store the fatty substances correctly. This could cause glucocerebroside …show more content…
There isn 't much research on this protein but once scientist began to research alpha-synuclein then there will be better understanding of how Gaucher’s works. According to the National Gaucher’s Foundation “the balance of glucocerebroside enzyme and alpha-synuclein may play a critical role in helping the body’s proteins work correctly”(GaucherDisease). This means that having too much of the alpha-synuclein might keep the glucocerebroside enzyme from breaking down glucocerebroside. This could lead to improper protein folding meaning that the unusual folding of in this case alpha-synuclein causes the proteins to cluster together so that it can not preform its job. This improper folding has been linked to trigger early Parkinson’s disease, usually found with Parkinson’s disease or “LBD who also have a GBA gene mutations this accumulations of abnormal proteins degrades the neutrons so they stop working correctly”(Nalls). With this research being conducted it may lead to new investigations with new insight on how to treat Gaucher’s. From recent research this could lead to reducing glucocerebroside by having researchers test large number of chemical compounds to see what can lower the glucocerebroside in Gaucher 's patient’s body. This would conduct research in order to find which a drug that could cross the blood brain barrier, this helps to protect the brain while filtering out medications, if this proves to be successful it could make a new treat for Gaucher’s patients with type 2 or type 3 Gaucher’s. Another treatment that could become possible if enough research was conducted would be using the chaperone gents which if you don’t know is a variety of drugs that help keep proteins properly folded so they are able to work correctly this