Genetics of normal and pathological sleep in humans

被引:97
作者
Dauviltiers, Y
Maret, S
Tafti, M
机构
[1] Hop Univ Geneve, Unite Biochim & Neurophysiol Clin, CH-1225 Chene Bourg, Switzerland
[2] Gui De Chauliac Hosp, Serv Neurol B, Montpellier, France
[3] Colombiere Hosp, INSERM, E0361, Montpellier, France
关键词
association; linkage; twins; narcolepsy; apnea; insomnia; sleepwalking; Kleine-Levin syndrome;
D O I
10.1016/j.smrv.2004.06.001
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The complexity of sleep-wake regulation, in addition to the many environmental influences, includes genetic predisposing factors, which begin to be discovered. Most of the current progress in the study of sleep genetics comes from animal models (dogs, mice, and drosophila). Multiple approaches using both animal models and different genetic techniques are needed to follow the segregation and ultimately to identify 'sleep genes' and molecular bases of sleep disorders. Recent progress in molecular genetics and the development of detailed human genome map have already led to the identification of genetic factors in several complex disorders. Only a few genes are known for which a mutation causes a steep disorder. However, single gene disorders are rare and most common disorders are complex in terms of their genetic susceptibility, environmental factors, gene-gene, and gene-environment interactions. We review here the current progress in the genetics of normal and pathological steep and suggest a few future perspectives. (c) 2004 Elsevier Ltd. All rights reserved.
引用
收藏
页码:91 / 100
页数:10
相关论文
共 112 条
[1]  
ABE K, 1966, PSYCHIAT NEUROL, V152, P363
[2]  
ABE K, 1966, PSYCHIAT NEUROL, V152, P306
[3]   Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome [J].
Amiel, J ;
Laudier, B ;
Attié-Bitach, T ;
Trang, H ;
de Pontual, L ;
Gener, B ;
Trochet, D ;
Etchevers, H ;
Ray, P ;
Simonneau, M ;
Vekemans, M ;
Munnich, A ;
Gaultier, C ;
Lyonnet, S .
NATURE GENETICS, 2003, 33 (04) :459-461
[4]  
ANOKHINE P, 1939, PRESSE MED, P20
[5]   A length polymorphism in the circadian clock gene Per3 is linked to delayed sleep phase syndrome and extreme diurnal preference [J].
Archer, SN ;
Robilliard, DL ;
Skene, DJ ;
Smits, M ;
Williams, A ;
Arendt, J ;
von Schantz, M .
SLEEP, 2003, 26 (04) :413-415
[6]  
BAKWIN H, 1970, Lancet, V2, P446, DOI 10.1016/S0140-6736(70)90058-9
[7]   Familial incidence of insomnia [J].
Bastien, CH ;
Morin, C .
JOURNAL OF SLEEP RESEARCH, 2000, 9 (01) :49-54
[8]   Autosomal dominant restless legs syndrome maps on chromosome 14q [J].
Bonati, MT ;
Ferini-Strambi, L ;
Aridon, P ;
Oldani, A ;
Zucconi, M ;
Casari, G .
BRAIN, 2003, 126 :1485-1492
[9]   Functional characterization of the new human GABAA receptor mutation β3(R192H) [J].
Buhr, A ;
Bianchi, MT ;
Baur, R ;
Courtet, P ;
Pignay, V ;
Boulenger, JP ;
Gallati, S ;
Hinkle, DJ ;
Macdonald, RL ;
Sigel, E .
HUMAN GENETICS, 2002, 111 (02) :154-160
[10]   Narcolepsy in orexin knockout mice:: Molecular genetics of sleep regulation [J].
Chemelli, RM ;
Willie, JT ;
Sinton, CM ;
Elmquist, JK ;
Scammell, T ;
Lee, C ;
Richardson, JA ;
Williams, SC ;
Xiong, YM ;
Kisanuki, Y ;
Fitch, TE ;
Nakazato, M ;
Hammer, RE ;
Saper, CB ;
Yanagisawa, M .
CELL, 1999, 98 (04) :437-451