Mitochondrial dysfunction in autistic patients with 15q inverted duplication

被引:98
作者
Filipek, PA
Juranek, J
Smith, M
Mays, LZ
Ramos, ER
Bocian, M
Masser-Frye, D
Laulhere, TM
Modahl, C
Spence, MA
Gargus, JJ
机构
[1] Univ Calif Irvine, Coll Med, Dept Pediat, Irvine, CA 92717 USA
[2] Univ Calif Irvine, Coll Med, Div Child Neurol, Irvine, CA 92717 USA
[3] Univ Calif Irvine, Coll Med, Div Human Genet, Irvine, CA 92717 USA
[4] Univ Calif Irvine, Sch Social Ecol, Dept Psychol & Social Behav, Irvine, CA 92717 USA
[5] Univ Calif Irvine, Coll Med, Dept Physiol & Biophys, Irvine, CA 92717 USA
关键词
D O I
10.1002/ana.10596
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Two autistic children with a chromosome 15q11-q13 inverted duplication are presented. Both had uneventful perinatal courses, normal electroencephalogram and magnetic resonance imaging scans, moderate motor delay, lethargy, severe hypotonia, and modest lactic acidosis. Both had muscle mitochondrial enzyme assays that showed a pronounced mitochondrial hyperproliferation and a partial respiratory chain block most parsimoniously placed at the level of complex III, suggesting candidate gene loci for autism within the critical region may affect pathways influencing mitochondrial function.
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页码:801 / 804
页数:4
相关论文
共 23 条
[1]  
Bailey DB, 2001, J AUTISM DEV DISORD, V31, P165
[2]   DUPLICATION OF CHROMOSOME 15Q11-13 IN 2 INDIVIDUALS WITH AUTISTIC DISORDER [J].
BAKER, P ;
PIVEN, J ;
SCHWARTZ, S ;
PATIL, S .
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 1994, 24 (04) :529-535
[3]   Cyclic vomiting syndrome and mitochondrial DNA mutations [J].
Boles, RG ;
Chun, N ;
Senadheera, D ;
Wong, LJC .
LANCET, 1997, 350 (9087) :1299-1300
[4]  
BUNDEY S, 1994, DEV MED CHILD NEUROL, V36, P736
[5]  
Cook EH, 1997, AM J HUM GENET, V60, P928
[6]   Coordinate induction of energy gene expression in tissues of mitochondrial disease patients [J].
Heddi, A ;
Stepien, G ;
Benke, PJ ;
Wallace, DC .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (33) :22968-22976
[7]   The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression [J].
Herzing, LBK ;
Kim, SJ ;
Cook, EH ;
Ledbetter, DH .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1501-1505
[8]   MITOCHONDRIAL BIOGENESIS IN STRIATED-MUSCLE [J].
HOOD, DA ;
BALABAN, A ;
CONNER, MK ;
CRAIG, EE ;
NISHIO, ML ;
REZVANI, M ;
TAKAHASHI, M .
CANADIAN JOURNAL OF APPLIED PHYSIOLOGY-REVUE CANADIENNE DE PHYSIOLOGIE APPLIQUEE, 1994, 19 (01) :12-48
[9]   Respiratory chain complex I deficiency - An underdiagnosed energy generation disorder [J].
Kirby, DM ;
Crawford, M ;
Cleary, MA ;
Dahl, HHM ;
Dennett, X ;
Thorburn, DR .
NEUROLOGY, 1999, 52 (06) :1255-1264
[10]   Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay [J].
Long, FL ;
Duckett, DP ;
Billam, LJ ;
Williams, DK ;
Crolla, JA .
JOURNAL OF MEDICAL GENETICS, 1998, 35 (05) :425-428