PINK1 gene

The official name of this gene is PTEN induced putative kinase 1,Gene provides informations to produce serine/threonine protein kinase that localizes to mitochondria,it is function of PTEN induced putative kinase 1 is not fully understood. It appears to help protect mitochondria from malfunctioning during periods of cellular stress, such as unusually high energy demands,Researchers believe that two specialized regions of PTEN induced putative kinase 1 are essential for the protein to function properly. One region, called the mitochondrial-targeting motif, serves as a delivery address. The protein is produced outside the mitochondria, and this motif helps ensure that it is delivered to the mitochondria. Another region, called the kinase domain, probably carries out the protein's protective function.

Location :PINK1 gene is present chromosome 1 and coded from 20,832,534 to 20,850,590 region ,the cytogenetic location is 1p36 ,The gene size is 18057 bp with 8 exons.

Disease:

Researchers have identified more than 20 PINK1 mutations that cause early-onset Parkinson disease. Some mutations change one of the protein building blocks (amino acids) used to make PTEN induced putative kinase 1. Other mutations lead to an abnormally small version of the protein. Many PINK1 mutations alter or eliminate the kinase domain, leading to a loss of protein function. At least one mutation affects the mitochondrial-targeting motif and may disrupt delivery of the protein to mitochondria. With reduced or absent PTEN induced putative kinase 1 activity, mitochondria may malfunction, particularly when cells are stressed. Cells can die if power is not provided for essential activities. It is unclear how PINK1 mutations cause the selective death of nerve cells that characterizes Parkinson disease.

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PARK7 Gene

The official name of this gene is “Parkinson disease (autosomal recessive, early onset) 7.”PARK7 Gene provides informations to produce DJ-1 protein ,Studies indicate that this protein has several functions like positve regualtor of androgen receptor transcription.The DJ-1 protein helps to protect brain cells (especially neurons)from oxidative stress.Oxidative stress ocurs when unstable molecules called free radicals accumulate to levels that damage or kill cell additionaly it also function as a Chaperone molecule that helps fold newly produced proteins into the proper 3-dimensional shape and helps refold damaged proteins.Researchers also suggest that the DJ-1 protein may play a role in activities that produce and process RNA, a chemical cousin of DNA.

Location :PARK7 gene is present chromosome 1 and coded from 7944380 to 7967926 region ,the cytogenetic location is 1p36.23 ,The gene size is 23547 bp with 7 exons

Disease:

Parkinson disease is caused by mutation in PARK7 gene,reseachers had identified more than 10 PARK7 mutations that cause early-onset Parkinson disease,In some cases large portion of PARK& gene is deleted and no product is produced (functional DJ-1 Protein),other mutations creates an altered protein which doesn not function properly

Understanding Parkinson's Disease


Mode of action:

Some researchers suggest PARK7 mutations distrupt teh proteins chaperone function which leads to a toxic buildup of misfold or damaged proteins and eventually to cell death.Another possibility is that PARK7 mutations impair the protein's ability to protect cells from destructive oxidative stress. Nerve cells that make the chemical messenger dopamine are particularly vulnerable to oxidative stress. With diminished protection, free radicals may cause enough damage to kill these nerve cells. Loss of dopamine-producing nerve cells is a characteristic feature of Parkinson disease.

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