Homozygosity Mapping In An Iranian Pedigree Affected With Early Onset Parkinsons Disease (EOPD) And Linkage To Chromosome 6 | 58303
Journal of Alzheimers Disease & Parkinsonism
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Parkinson’s disease (PD) is a common neurodegenerative disease. Its prevalence is estimated 2% among individuals older
than 65 years. Both environmental and genetic factors contribute to the etiology of PD. Five (5) principal PD causing
genes were identified: α-synuclein (PARK1), LRRK2 (Leucine-rich repeat kinase 2; PARK8), PRKN (parkin; PARK2), PINK1
(PTEN-induced putative kinase 1; PARK5), and DJ-1 (PARK7). Mutations in these genes account for disease in a few percent
of the patient, suggesting other PD causing genes remain to be identified. The combination of homozygosity mapping and
exome sequencing is a powerful and efficient gene finding method applicable to recessive disorders in inbred populations, and
the finding of new genes will enhance understandings of diseases pathogenesis. In our study, genome-wide single nucleotide
polymorphisms (SNP) genotyping was carried out in an Iranian EOPD family using high density SNP chips. Two (2) affected
siblings, 2 unaffected siblings and unaffected parents were genotyped. Homozygous regions common to all affected individuals
and absent in non-affected individuals were sought. Disease status in the family is linked to a large homozygous region of 15Mb
on chromosome 6. The linked region included 130 genes. Mutation screening of these genes is difficult and costly, so exome
sequencing on 2 affected and 2 unaffected siblings was performed and candidate genes in the linked region were analyzed then.
Age at onset of symptoms was in the second decade of life, and the mode of inheritance was autosomal recessive. Bradykinesia
and rigidity, tremor, eye movement abnormalities including supranuclear gaze palsy, dystonia and bulbar anomalies were
reported in 2 affected siblings.
Afagh Alavi received his BSc in Biology from Shahid Chamran University of Ahvaz, Iran (1998) and MSc and PhD in Molecular Biology from the University of Tehran, Iran (respectively, 2007 & 2013). He spent more than 15 years as a teacher of Biology (1998-2013), and then moved to University of Social Welfare and Rehabilitation Sciences, Tehran, Iran (2013). Since 2013, he serves as an Assistant Professor in the Genetics Research Center in this university. His main areas of research interest lie in the area of genetics and molecular analysis of neuromuscular and muscular disorders.