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Mitochondrial dysfunction in autistic patients with 15q inverted duplication
Author(s) -
Filipek Pauline A.,
Juranek Jenifer,
Smith Moyra,
Mays Lee Z.,
Ramos Erica R.,
Bocian Maureen,
MasserFrye Diane,
Laulhere Tracy M.,
Modahl Charlotte,
Spence M. Anne,
Gargus J. Jay
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10596
Subject(s) - gene duplication , psychology , medicine , genetics , biology , gene
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. Ann Neurol 2003;53:801–804