The frequency of common mitochondrial DNA mutations in a cohort of Malaysian patients with specifi c mitochondrial encephalomyopathy syndromes
- Author:
Jia-Woei Chong
;
Azlina Ahmad Annuar
;
Kum-Thong Wong
;
MeowKeong Thong
;
Khean-Jin Goh
- Publication Type:Journal Article
- From:Neurology Asia
2011;16(4):321-327
- CountryMalaysia
- Language:English
-
Abstract:
A cohort of Malaysian patients with clinico-pathological diagnosis of three specifi c mitochondrial
encephalomyopathy syndromes comprising of mitochondrial encephalomyopathy, lactic acidosis
and stroke-like episodes (MELAS), myoclonus epilepsy with ragged-red fi bers (MERRF) and Leigh
syndrome were studied to determine the frequency of their common mitochondrial DNA mutations. The
‘hot-spot’ point mutations for MELAS, MERRF and Leigh syndrome were screened. In the absence
of common point mutations, screening of large-scale deletions as well as sequencing of tRNALeu and
tRNALys genes were performed. Of 22 patients studied, nine m.3243A>G mutations, four m.8344A>G
mutations, one m.8993T>G mutation and one deletion were identifi ed (65% detection rate). While the
m.3243A>G mutation was closely associated with MELAS, the m.8344A>G was more heterogenous,
being seen in one MERFF, two isolated mitochondrial myopathies and one Leigh syndrome patient.
Screening for m.8993T>G in Leigh syndrome has a low yield as unsurprisingly Leigh syndrome has
considerable genetic heterogeneity.
- Full text:W020150818610511458986.pdf
