Modulation of repeat size in trinucleotide repeat expansion disorders

2016 Fiscal Year Final Research Report

• Project/Area Number: 25713034
• Research Category: Grant-in-Aid for Young Scientists (A)
• Allocation Type: Partial Multi-year Fund
• Research Field: Neurology
• Research Institution: Osaka University
• Principal Investigator: NAKAMORI Masayuki 大阪大学, 医学(系)研究科(研究院), 助教 (60630233)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: 筋強直性ジストロフィー / ハンチントン病 / トリプレットリピート / リピート不安定性

Outline of Final Research Achievements

Triplet repeat disorders are caused by abnormal expansion of trinucleotide repeat sequences (repeat), and the longer the repeat the more severe the condition. These repeats also lengthen with age, contributing to progression of the disease. Therefore, controlling the repeat length is important from a treatment perspective. Here we conducted research with the aim of elucidating the repeat expansion mechanism as well as developing therapies to stabilize or shorten the repeat length. As a result, we have identified factors that affect repeat expansion, using repeat disorder model cells and patient-derived iPS cells. We also discovered a compound that stabilizes or shortens the repeat length, the effect has been demonstrated in cell models, and we can expect future clinical application of this discovery.

Free Research Field

神経内科学