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Deficiency of respiratory chain complex I is a common cause of leigh disease
Author(s) -
Morris A. A. M.,
Leonard J. V.,
Brown G. K.,
Bidouki S. K.,
Bindoff L. A.,
Turnbull D. M.,
Woodward C. E.,
Harding A. E.,
Lake B. D.,
Harding B. N.,
Farrell M. A.,
Bell J. E.,
Mirakhur M.
Publication year - 1996
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.410400107
Subject(s) - pedigree chart , etiology , respiratory chain , mitochondrial dna , leigh disease , disease , mitochondrial respiratory chain , mitochondrial disease , pathology , medicine , abnormality , biology , genetics , gastroenterology , mitochondrion , gene , psychiatry
We reviewed the clinical features and etiologies of Leigh disease in 66 patients from 60 pedigrees. Biochemical or molecular defects were identified in 50% of all pedigrees, and in 74% of the 19 pedigrees with pathologically proved Leigh disease. Isolated deficiency of respiratory chain complex I was found in 7 patients, though the complex was only assayed in 25 patients, making this the second most common biochemical abnormality after complex IV deficiency. Mutations at residue 8993 of mitochondrial DNA were found in only 2 patients. No correlation was found between the clinical features and etiologies. No defects were identified in the 8 patients with normal lactate concentrations in the cerebrospinal fluid.