Abstract
This study investigated the genetic and enzymological features of Leigh syndrome due
to respiratory chain complex deficiency in Chinese patients. The clinical features
of 75 patients were recorded. Mitochondrial respiratory chain enzyme activities were
determined via spectrophotometry. Mitochondrial gene sequence analysis was performed
in 23 patients. Five core pedigrees were investigated via restriction fragment length
polymorphism and gene sequencing. Psychomotor retardation (55%), motor regression
(20%), weakness (29%), and epilepsy (25%) were the most frequent manifestations. Sixty-four
patients (85.3%) had isolated respiratory complex deficiencies: complex I was seen
in 28 patients (37.3%); complex II, seven (9.3%); complex III, six (8%); complex IV,
ten (13.3%); and complex V, 13 patients (17.3%). Eleven patients (14.7%) had combined
complex deficiencies. Mitochondrial DNA mutations were detected in 10 patients. Eight
point mutations were found in mitochondrial structural genes: m.4833A > G in ND2, m.10191T > C in ND3, m.12338T > C and m.13513G > A in ND5, m.14502T > C and m.14487T > C in ND6, m.8108A > G in COXII, and m.8993T > G in ATPase6. Three mutations were found in tRNA genes: m.4395A > G in tRNA-Gln, m.10454T > C in tRNA-Arg, and m.5587T > C in tRNA-Ala. One patient and their mother both had the m.12338T > C and m.8993T > C mutations. In conclusion, mitochondrial respiratory chain complex I deficiency and
structural gene mutations frequently occur in Chinese Leigh syndrome patients.
Keywords
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