Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome

A. Vanniarajan, G. P. Rajshekher, M. B. Joshi, A. G. Reddy, L. Singh, K. Thangaraj

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)350-353
Number of pages4
JournalActa Neurologica Scandinavica
Volume114
Issue number5
DOIs
Publication statusPublished - 11-2006

Fingerprint

Leigh Disease
Mutation
Genes
Mitochondrial Genome
Mitochondrial Genes
Missense Mutation
Histidine
Tyrosine
Amino Acids

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Vanniarajan, A. ; Rajshekher, G. P. ; Joshi, M. B. ; Reddy, A. G. ; Singh, L. ; Thangaraj, K. / Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome. In: Acta Neurologica Scandinavica. 2006 ; Vol. 114, No. 5. pp. 350-353.
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Vanniarajan, A, Rajshekher, GP, Joshi, MB, Reddy, AG, Singh, L & Thangaraj, K 2006, 'Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome', Acta Neurologica Scandinavica, vol. 114, no. 5, pp. 350-353. https://doi.org/10.1111/j.1600-0404.2006.00673.x

Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome. / Vanniarajan, A.; Rajshekher, G. P.; Joshi, M. B.; Reddy, A. G.; Singh, L.; Thangaraj, K.

In: Acta Neurologica Scandinavica, Vol. 114, No. 5, 11.2006, p. 350-353.

Research output: Contribution to journalArticle

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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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