The functional analysis of WNK in neural system, which is a causative gene of PHAII and HSAN2A

2016 Fiscal Year Final Research Report

• Project/Area Number: 26460386
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Pathological medical chemistry
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: SATO ATSUSHI 東京医科歯科大学, 難治疾患研究所, 助教 (30451925)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: WNK / 偽性低アルドステロン症II型 / 遺伝性感覚性自律神経性ニューロパチータイプ2A型

Outline of Final Research Achievements

WNK is Ser/Thr kinases and is conserved among many species. In human, WNK is known as a causative gene of Psuedohypoaldosteronism type II (PHAII) and Hereditary sensory and autonomic neuropathy type 2A (HSAN2A). However, pathogenic mechanisms of both diseases are still unknown. For analyzing these, I started the functional analysis of WNK in neural system. From the screening of new interacting factor(s) of WNK using Drosophila, I found that WNK was involved in Notch signaling pathway, which played very important roles of the neural development. In the neural cultured cells, WNK positively regulated Notch signaling pathway. For studying the detail pathogenic mechanisms, I started more detail analysis of this interaction between WNK and Notch signaling pathway.

Free Research Field

分子発生遺伝学