mtDNA haplogroup J: a contributing factor of optic neuritis

Eur J Hum Genet. 1999 Apr;7(3):404-6. doi: 10.1038/sj.ejhg.5200293.


Optic neuritis frequently occurs in multiple sclerosis (MS), and shares several similarities with the optic neuritis of Leber's hereditary optic neuropathy (LHON), which is mainly due to maternally transmitted mitochondrial DNA (mtDNA) mutations. Our report shows for the first time that a mitochondrial DNA background could influence the clinical expression of MS. One European mtDNA haplogroup was found only in MS patients with optic neuritis but not in MS patients without visual symptoms. Therefore, we hypothesize that mtDNA haplogroup J might constitute a risk factor for optic neuritis occurrence when it is coincidentally associated with MS, but not be a risk factor for developing MS per se as suggested previously.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • DNA, Mitochondrial*
  • Female
  • Humans
  • Male
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / physiopathology
  • Optic Neuritis / genetics*
  • Phenotype


  • DNA, Mitochondrial