Identification of NIID causative gene with next generation sequencer

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591257
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Neurology
• Research Institution: Nagoya University
• Principal Investigator: SONE Jun 名古屋大学, 医学(系)研究科(研究院), 寄附講座助教 (40513750)
• Co-Investigator(Kenkyū-buntansha): KOIKE Haruki 名古屋大学, 医学部附属病院, 講師 (80378174) ; TANAKA Fumiaki 名古屋大学, 大学院医学系研究科, 准教授 (30378012)
• Co-Investigator(Renkei-kenkyūsha): MORISHITA Shinichi 東京大学, 新領域創成科学研究科, 教授 (90292854) ; SUGANO Sumio 東京大学, 新領域創成科学研究科, 教授 (60162848)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: NIID / 核内封入体 / 皮膚生検 / 次世代シークエンサー / 連鎖解析

Outline of Final Research Achievements

We studied Exome and Whole Genome sequence of 2 familial NIID pedigrees and sporadic NIID cases. We performed Linkage analysis with MERLIN software and obtained almost same result of Linkage analysis with micro satellite markers. We concluded that causative gene of NIID must be exist within this position. We did not find out NIID causative gene, however, we have to study many subjects continuously to find NIID causative gene finally. Besides, the number of sporadic NIID cases exhibiting dementia is growing recently and we include more sporadic NIID cases in our study, and report in the paper that sporadic NIID cases also diagnosed by skin biopsy.

Free Research Field

神経内科学