The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

Vittoria Petruzzella, Alessandra Tessa, Alessandra Torraco, Fabiana Fattori, Maria Teresa Dotti, Claudio Bruno, Elena Cardaioli, Sergio Papa, Antonio Federico, Filippo M. Santorelli

Research output: Contribution to journalArticlepeer-review

Abstract

Over 95% of Leber hereditary optic neuropathy (LHON) cases are due to mutations in mitochondrial DNA-encoded subunits of NADH:ubiquinone oxidoreductase (E.C.1.6.5.3., complex I). A recessive X-linked susceptibility gene that acts synergistically with the primary mtDNA mutation to produce visual loss is suggested by the high male-to-female ratio among LHON patients. The ESSS protein is a recently isolated subunit of bovine heart mitochondrial complex I. We revisited the genomic sequence of NDUFB11, the human homolog mapping to chromosome Xp11.23, and identified two mRNA isoforms showing different expression profiles in human tissues. Cultured skin fibroblasts from four LHON patients showed a pattern of expression similar to normal controls. Moreover, NDUFB11 did not seem to influence risk and age at onset of visual loss in a total of 65 individuals from 35 Italian LHON families. Also, the gene was not affected in 11 children with a severe encephalopathy associated with decreased complex I activity in skeletal muscle.

Original languageEnglish
Pages (from-to)181-187
Number of pages7
JournalBiochemical and Biophysical Research Communications
Volume355
Issue number1
DOIs
Publication statusPublished - Mar 30 2007

Keywords

  • Leber hereditary optic neuropathy (LHON)
  • mtDNA
  • NDUFB11
  • X chromosome

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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