研究者情報

ヒトミ　トシアキ   HITOMI TOSHIAKI   人見敏明    所属   医学部医学科 予防医学    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	A new horizon of moyamoya disease and associated health risks explored through RNF213.
掲載誌名	正式名：Environmental Health and Preventive Medicine 略　 称：Environ Health Prev Med ISSNコード：1342078X
掲載区分	国内
巻・号・頁	21,55-70頁
著者・共著者	Koizumi A, Kobayashi H, Hitomi T, Harada KH, Habu T, Youssefian S
発行年月	2016
概要	The cerebrovascular disorder moyamoya disease (MMD) was first described in 1957 in Japan, and is typically considered to be an Asian-specific disease. However, it is globally recognized as one of the major causes of childhood stroke. Although several monogenic diseases are known to be complicated by Moyamoya angiopathy, the ring finger protein 213 gene (RNF213) was identified as a susceptibility gene for MMD. RNF213 is unusual, because (1) it induces MMD with no other recognizable phenotypes, (2) the RNF213 p.R4810K variant is an Asian founder mutation common to Japanese, Korean and Chinese with carrier rates of 0.5-2 % of the general population but a low penetrance, and (3) it encodes a relatively largest proteins with a dual AAA+ ATPase and E3 Ligase activities. In this review, we focus on the genetics and genetic epidemiology of RNF213, the pathology of RNF213 R4810K, and the molecular functions of RNF213, and also address the public health contributions to current unresolved issues of MMD. We also emphasize the importance of a more updated definition for MMD, of qualified cohort studies based on genetic epidemiology and an awareness of the ethical issues associated with genetic testing of carriers.
DOI	10.1007/s12199-015-0498-7