期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 120A, 期 1, 页码 13-18出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.10202
关键词
complex II deficiency; flavoprotein; iron-containing protein; complex instability; blue native polyacrylamide; gel electrophoresis (Blue Native PAGE)
A homozygous mutation in the flavoprotein (Fp) gene associated with complex II deficiency was demonstrated in a patient with consanguineous parents. She succumbed at 5(1)/(2) months of age following a respiratory infection. The c1664G --> A transition detected, predicted the substitution of the small uncharged glycine at position 555 by glutamic acid. Her clinical course was at variance with the Leigh syndrome in three previously reported patients due to Fp gene mutations. In this proband, CRM for flavoprotein as well as iron-containing protein (Ip) was decreased, CRM for the entire complex II (130 kDa) being reduced even more. This observation prompts speculation of a labile interaction between Ip and Fp polypeptides and of a key role of the amino acid at position 555 in the interacting domain. (C) 2003 Wiley-Liss, Inc.
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