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Related Experiment Videos

Harding's disease: an important MS mimic.

Stuti Joshi1, Allan G Kermode2,3

  • 1Department of Neurology, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.

BMJ Case Reports
|April 3, 2019
PubMed
Summary

Leber's hereditary optic neuropathy (LHON) and Harding's disease show varied clinical presentations in siblings with the same mitochondrial DNA mutation. This highlights complex genetic factors influencing disease manifestation and sex-based differences.

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Area of Science:

  • Genetics
  • Neurology
  • Ophthalmology

Background:

  • Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder causing vision loss and optic atrophy.
  • LHON can co-occur with neurological conditions like multiple sclerosis (MS), termed Harding's disease.
  • Mitochondrial DNA mutations are implicated in LHON pathogenesis.

Observation:

  • Two siblings with the 11778 mitochondrial DNA mutation presented with distinct phenotypes.
  • The male sibling exhibited classical LHON, while the female sibling displayed an MS-like illness (Harding's disease).
  • LHON predominantly affects males, whereas Harding's disease is more common in females, mirroring MS prevalence.

Findings:

  • The 11778 mtDNA mutation can lead to divergent clinical outcomes within the same family.
Keywords:
multiple sclerosisneuro genetics

Related Experiment Videos

  • Sex-based differences in disease presentation are evident for LHON and Harding's disease.
  • The study underscores the variability in penetrance and phenotype expression.

    • Implications:

    • Further research is needed to elucidate the genetic and molecular mechanisms driving sex-specific phenotypes in mitochondrial disorders.
    • Understanding these variations is crucial for accurate diagnosis and genetic counseling.
    • This case highlights the complex interplay between genetics, environment, and sex in disease expression.