Elucidation of the pathological mechanism of Gorlin syndrome using disease-specific iPS cells

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K20427
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Functional basic dentistry
• Research Institution: Tokyo Dental College
• Principal Investigator: Onodera Shoko 東京歯科大学, 歯学部, 講師 (90637662)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: 疾患iPS細胞 / 骨芽細胞分化 / 遺伝子解析

Outline of Final Research Achievements

Golrin syndrome is an autosomal dominant inherited disorder with a mutation in the Hh receptor, PTCH1. The syndrome have various conditions like bone abnomarty and multipul tumor. Although relationship between mutation location and symptoms is unclear. Genetic analysis showed that there were variants in other Hh receptor receptors PTCH2 and BOC in patients with mutations in PTCH1. This additional mutation may affect activation of Hh pathway. GorliniPS cells established from this syndrome have activation of the WNT pathway and BMP pathway in addition to the activity of the Hh pathway at osteoblast differentiation.This interaction may contributes to bone morphological abnormality with Gorlin syndrome.

Free Research Field

疾患iPS細胞