Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

Orphanet J Rare Dis. 2019 Jun 21;14(1):150. doi: 10.1186/s13023-019-1128-z.

Abstract

Background: The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences suggest two therapeutic approaches: the reduction of the mutation load in heteroplasmic patients or the elevation of mitochondrial DNA amount in homoplasmic patients.

Results: Here we show that ketogenic treatment, in cybrid cell lines, reduces the percentage of the m.13094 T > C heteroplasmic mutation and also increases the mitochondrial DNA levels of the m.11778G > A mitochondrial genotype.

Conclusions: These results suggest that ketogenic diet could be a therapeutic strategy for Leber hereditary optic neuropathy.

Keywords: Ketogenic diet; Leber hereditary optic neuropathy; Mitochondrial DNA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Diet, Ketogenic
  • Female
  • Humans
  • Male
  • Mutation / genetics*
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Point Mutation / genetics

Substances

  • DNA, Mitochondrial