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Parkinsons 2016

December 05-07, 2016

Volume 6 Issue 6(Suppl)

J Alzheimers Dis Parkinsonism

ISSN: 2161-0460 JADP, an open access journal

conferenceseries

.com

December 05-07, 2016 Phoenix, USA

2

nd

International Conference on

Parkinson’s Disease & Movement Disorders

Afagh Alavi et al., J Alzheimers Dis Parkinsonism 2016, 6:6(Suppl)

http://dx.doi.org/10.4172/2161-0460.C1.025

Homozygosity mapping in an Iranian pedigree affected with early onset Parkinson’s disease

(EOPD) and linkage to chromosome 6

Afagh Alavi

1

, Elahe Elahi

1

, Maryam Malakooti Nejad

1

and

Gholamali Shahidi

2

1

University of Tehran, Iran

2

Iran University of Medical Sciences, Iran

P

arkinson’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.

Biography

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.

afaghalavi@gmail.com