parkinson disease affected by genes (general knowledge)

Parkinson is a disease which will cause a human being unable to move due the problem in sending the signal from the organ to the brain. In general, Parkinson disease is being divided by two groups which are early-onset and late-onset. The late-onset will attack those people who are at the age of 50years old or older. On the other hand, the early-onset will be referring to the younger generation which is before 50 years old. Researchers have found out that genes are associated with Parkinson disease. The main three genes are GBA, SNCAIP, and UCHL1.

The official name for GBA is “glucosidase, beta; acid (includes glucosylceramidase).” The GBA functions as enzyme producer. It produces the enzyme of beta-glucocerebrosidase. This enzyme is active in lysosomes which are being used to break down the toxic substances, digest bacteria in the cell, and also recycle the worn-out cell components. Besides it also helps to break down glucocerebroside into a glucose and ceramide. However in growing evidence suggests that GBA mutation and Parkinson disease are associated. Researchers have found that people who have Gaucher disease and GBA carriers will have higher risk in getting Parkinson disease. In general, Parkinson disease occurs when the nerve cells in human being are getting lesser which will produce dopamine. Dopamine is a signal which is being transmitted from brain to the organs and vice versa. Researchers believe that GBA mutations may contribute in the faulty of breaking down the toxic substances in nerve cells by impairing the function of lysosomes. It may also enhace the formation of abnormal protein deposits. In that case, the toxic substances and protein deposits could kill the dopamine which is the nerve cells producers. If the nerve cells are insufficient enough, it will lead to difficulties in moving and balancing.

Another genes which have a link to Parkinson disease is SNCAIP genes. The general name for SNCAIP is “synuclein, alpha interacting protein (synphilin).” This gene functions as producing synphilin-1 protein. These proteins are usually located in specialized structures which are in presynaptic terminals at the tips of nerve cells. In nerve cells, synphilin-1 and synphilin-1A will interact with another protein which is alpha-synuclein. However there are not many Parkinson diseases which are caused by SNCAIP genes. For this mutation will lead to a change in one of the building blocks used to produce synphilin-1. Some studies believe that altered synphilin-1 proteins cluster together, which could disturb normal cell activities which is including the nerve cells. Synphilin-1 and alpha-synuclein are components a part of Lewy bodies. Lewy bodies in a region of brain called substantia nigra, which controls balancing and moving. If problems occur in Lewy bodies to a person, he or she will also suffer from Parkinson disease.

The third gene which associates with Parkinson disease is UCHL1. UCHL1 is generally known as “ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase).” The UCHL1 is a gene which produces ubiquitin carboxyl-terminal esterase L1 enzyme. This enzyme can usually being found in nerve cells throughout the brain. It will help to degrade those unwanted proteins. The UCHL1 appears to reduce the risk of getting Parkinson disease especially in young adults. This will happen when there is a change in one of the blocks of acid amino which is used to produce UCHL1 enzyme. This will usually happen in Chinese and Japanese. However, it is lesser possibilities for European populations to get this problem. When the problem occurs it will reduce the ligase activity of the UCHL1 enzyme but has little effect on hydrolase activity. This will indirectly increase the risk of having Parkinson disease. There has been reported in two siblings with this disease. It was being explained that the mutation replaces the amino acid isoleucine with the amino acid methionine in UCHL1 enzyme. The mutation will decrease the hydrolase activity. It that way it may disrupt the ubiquitin-proteasome system. Instead of degrading, those unwanted proteins may accumulate to toxic levels that impair or kill nerve cells in the brain. It has been identified in only a single family.

In a nut shell, we can see that Parkinson disease which associated by UCHL1 genes take part in early-onset categories. The problem is due to the mutation of the genes are not very completed. If were to look at the first three problems we could clearly see that they affect more by protein extraction. However, most people who are having the age which is more than fifty which is in the late-onset category will have a higher possibility in getting this disease. From the three examples, we could see that genetic does not directly affect on the Parkinson disease. We can only see that the enzyme which produced by the genes affect more.

knowledge from:

http://ghr.nlm.nih.gov/condition=parkinsondisease