A genetic study of patients with multiple system atrophy from consanguineous families

2014 Fiscal Year Final Research Report

• Project/Area Number: 25860700
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Neurology
• Research Institution: The University of Tokyo
• Principal Investigator: MITSUI Jun 東京大学, 医学部附属病院, 助教 (70579862)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 遺伝学 / 連鎖解析 / 次世代シーケンサー / 神経変性疾患

Outline of Final Research Achievements

Two consanguineous families with multiple system atrophy were newly identified, and in total, six pedigrees with multiple system atrophy were subjected to this study. In the parametric linkage analysis allowing for heterogeneity, we did not find any apparent candidate loci. Subsequently, exome sequencing analysis was conducted in six probands with multiple system atrophy. Removing variants with a minor allele frequency > 0.1%, several candidate variants in the homozygous state remained in each pedigree. However, we did not detect any common variants shared in more than one family.

Free Research Field

神経内科学