TY - JOUR
T1 - Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome
AU - Vanniarajan, A.
AU - Rajshekher, G. P.
AU - Joshi, M. B.
AU - Reddy, A. G.
AU - Singh, L.
AU - Thangaraj, K.
PY - 2006/11
Y1 - 2006/11
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1600-0404.2006.00673.x
DO - 10.1111/j.1600-0404.2006.00673.x
M3 - Article
C2 - 17022785
AN - SCOPUS:33749511409
SN - 0001-6314
VL - 114
SP - 350
EP - 353
JO - Acta Neurologica Scandinavica
JF - Acta Neurologica Scandinavica
IS - 5
ER -