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Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome
Author(s) -
Vanniarajan A.,
Rajshekher G. P.,
Joshi M. B.,
Reddy A. G.,
Singh L.,
Thangaraj K.
Publication year - 2006
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.2006.00673.x
Subject(s) - mitochondrial dna , missense mutation , leigh disease , mutation , gene , genetics , biology , mitochondrion , nuclear gene , mutant , mitochondrial disease
We analyzed the complete mitochondrial genome of a 3‐month‐old female child with basal ganglionic lesions and other clinical features suggestive of Leigh syndrome, which is caused by variations in mitochondrial and nuclear genes. Our study revealed a novel, homoplasmic T11984C missense mutation in ND4 gene, which replaces a highly conserved amino acid tyrosine with histidine. Computational analysis showed that this mutation alters the secondary structure of ND4 subunit. As the mutation observed in this study was novel and homoplasmic, we speculate that there could be interplay of this mitochondrial mutation along with nuclear gene(s) in the pathogenesis.