A Clinical and molecular Genetic study of 50 families with Parkinson Disease (PD) In Iran

Publish Year: 1396
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:

NGCMED10_180

تاریخ نمایه سازی: 16 تیر 1397

Abstract:

Introduction: Parkinson s disease (PD) is the second most common neurodegenerative disorder. Despite that themajority of PD is sporadic approximately 5-10% of patient have monogenic forms of the disease with either anautosomal dominant (AD) or autosomal recessive (AR) Mendelian pattern of inheritances. To date several geneshave been found to be mutated in monogenic PD with nine genes being involved in the pathogenesis of ARPDand Juvenile Parkinsonism (JP). In this study we investigated the autosomal recessive PD, Parkinsonism genes in50 Iranian consanguineous families with ARPD or ARJP and identified VAC14 as a novel gene for hereditaryprogressive dystonic tremor and disabling dystonia.Material and Methods: In a large multi-center 4000 Iranian patients with diagnosis of Parkinson disease wereinvestigates, and the presence of consanguinity of all clinical files examined. DNA sample from all participantswere isolated from whole blood. Using standard procedures for genetic study use the salsa multiple ligationdependent probe amplification.Results: In this study the most emmon mutated gene was parkin. The DJ1 Mutation was identifies in a familypresented with oromandibular dystonia. The novel SYNJ1 mutation was identified in a patient who manifestedasymmetric Parkinsonism. Seizures were in patients carrying the SYNJ1 enzymatic activity leads to milderphenotype and increased seizure susceptibility.Discussion: This study identified novel gene (VAC14) to be mutate in patients with progressive and disablingdystonia and suggest the polyphosphosphoinositide signals pathway as a relevant therepeutic target forneurodegenerative disease such a PD and dystonia. We shows that the role of genes to assist the differentialdiagnosis of PD.

Keywords:

Parkinson disease- Novelgene mutation

Authors

Ahmad Chitsaz

Department of Neurology. Isfahan university of medical sciences

Shaghayegh Shaghayegh Taghavi

Department of medical Genetic shahid Beheshti university of medical sciences

Hossein Darvish

Department of medical Genetic shahid Beheshti university of medical sciences