Mutation analysis of RING1 domain of Parkin in early onset of Parkinson’s disease in Pakistani patients-a pilot study
Mutation analysis of RING1 domain of Parkin in early onset of Parkinson’s disease in Pakistani patients-a pilot study
Mutation analysis of RING1 domain of Parkin in early onset of Parkinson’s disease in Pakistani patients-a pilot study
Sadaf Niaz1, Masroor Ellahi Babar2, Tanveer Hussain2, Asif Nadeem1, Misbah Hussain1, Riffat Mehboob3*, Fridoon Jawad Ahmad3
ABSTRACT
Parkinson’s disease (PD) is considered as second most common neurodegenerative disorder, occurring mostly in
men. Almost 9 genes have been reported to be involved in the progression of PD, if mutated. Among them, PARK2
gene is involved in 50% of the early onset cases. Aim of study was to do mutation analysis of RING domain of Parkin
gene as there is no mutation reported previously. In current study, sequence analysis of RING1 domain of Parkin
protein was performed in a sample set of 30 patients (selected from different areas of Punjab, Pakistan) to find out
any Single Nucleotide Polymorphism (SNP).No SNP was detected in RING1 domain that could be related to the
disease. The data suggests that no genetic predisposition in RING1 domain may be responsible for the occurrence of
disease in local population. It may be due to genetic changes in any other part of the gene or due to other
environmental factors. However, we have limitation of sample size due to less occurrence of disease in this area. The
current study is very important for successive researches in Pakistan as the disease ratio is increasing continuously
due to consanguineous marriages.
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