[Current knowledge on the genetic factors involved in moyamoya disease].
Moyamoya disease (MMD) is characterized by progressive stenosis and occlusion of the terminal portion of the bilateral carotid arteries as well as arterial collateral vessels. The etiology of MMD, however, remains unknown. Several pieces of evidence suggest the involvement of genetic factors in MMD: over 10% of MMD patients have affected blood relatives; concordance in the affection status has been proven in 80% of identical twins; and there is an ethnic predisposition to MMD, the incidence of the disease being the highest in the Asian population. With regard to genetic factor (s), transmission of MMD does not follow the classic Mendelian law, i.e., skipping of a generation and discordance in identical twins, thereby indicating that genetic influence is likely to determine the susceptibility to MMD. This study aimed to overview the recent findings related to the genetic determinants in MMD and to provide research perspectives for the next decade. Pathophysiological investigations at molecular levels have uncovered the upregulation of various growth and stress response factors that are associated with angiogenesis in occlusive cerebral arteries.
Hashikata
Hirokuni
H
Department of Health, Kyoto University Graduate School of Medicine, Japan.
Liu
Wanyang
W
Mineharu
Yohei
Y
Inoue
Kayoko
K
Takenaka
Katsunobu
K
Ikeda
Hidetoshi
H
Houkin
Kiyohiro
K
Kuroda
Satoshi
S
Kikuchi
Kenji
K
Kimura
Mitsuru
M
Taki
Takuyuu
T
Sonobe
Makoto
M
Ban
Sadahiko
S
Nogaki
Hidekazu
H
Handa
Akira
A
Kikuta
Kenichiro
K
Takagi
Yasushi
Y
Nozaki
Kazuhiko
K
Hashimoto
Nobuo
N
Koizumi
Akio
A
D002874:Chromosome Mapping; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D009072:Moyamoya Disease / Q000235:genetics*
D006680:HLA Antigens