34
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.

      1 , , ,
      American journal of medical genetics
      Wiley

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by bilateral acute or subacute loss of central vision, primarily in young males. A G----A single base mutation at 11778nt of the mitochondrial genome which eliminates a SfaNI restriction site [Wallace et al., 1988; Holt et al., 1989; Hotta et al., 1989; Singh et al., 1989; Vilkki et al., 1989; Yoneda et al., 1989; Stone et al., 1990; Lott et al., 1990.] has been found in more than 60% of the families with LHON studied. We studied 25 persons from 4 families with LHON using SfaNI and Mae III digestion of a 201 base pair polymerase chain reaction (PCR) product encompassing the 11778nt mutation. The loss of the SfaNI site and the acquisition of a Mae III site at 11778nt were identified in all maternal relatives of the LHON families studied. The mutation was heteroplasmic in all affected individuals, female carriers, and males at-risk. The heteroplasmy of mitochondrial DNA (mtDNA) was also identified by direct DNA sequencing of PCR amplified by direct DNA sequencing of PCR amplified mtDNA digested by SfaNI or Mae III. It appears that the proportion of the mutant mtDNA correlates with the severity of the disease.

          Related collections

          Author and article information

          Journal
          Am J Med Genet
          American journal of medical genetics
          Wiley
          0148-7299
          0148-7299
          Jan 15 1992
          : 42
          : 2
          Affiliations
          [1 ] Johns Hopkins Center for Hereditary, Eye Disease of the Wilmer Ophthalmological Institute, Baltimore, Maryland 21205.
          Article
          10.1002/ajmg.1320420208
          1346348
          5c18382c-4abe-4479-ba32-1ba9c7698c21
          History

          Comments

          Comment on this article

          scite_
          0
          0
          0
          0
          Smart Citations
          0
          0
          0
          0
          Citing PublicationsSupportingMentioningContrasting
          View Citations

          See how this article has been cited at scite.ai

          scite shows how a scientific paper has been cited by providing the context of the citation, a classification describing whether it supports, mentions, or contrasts the cited claim, and a label indicating in which section the citation was made.

          Similar content247

          Cited by4