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Hereditary inclusion body myopathy: the Middle Eastern genetic cluster

Z Argov1, I Eisenberg, G Grabov-Nardini

  • 1Department of Neurology and Agnes Ginges Center for Human Neurogenetics, Hadassah University Hospital and Hebrew University-Hadassah Medical School, Jerusalem. zargov@md2.huji.ac.il

Neurology
|May 14, 2003
PubMed
Abstract

Insights

The common M712T mutation causes hereditary inclusion body myopathy (HIBM) in Middle Eastern populations, not just Persian Jews. This founder mutation, approximately 1,300 years old, shows incomplete penetrance and a wider spectrum of symptoms than previously recognized.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Hereditary inclusion body myopathy (HIBM) with quadriceps sparing was initially identified in Persian Jews.
  • The M712T mutation in the HIBM gene was recently discovered, prompting re-evaluation of HIBM epidemiology and phenotypes.

Observation:

  • The M712T mutation was investigated in HIBM patients across diverse Middle Eastern communities.
  • DNA analysis and haplotype construction were performed on affected individuals and unaffected family members.

Findings:

  • 129 HIBM patients from 55 families (Middle Eastern Jews, Karaites, Arab Muslims) were homozygous for the M712T mutation and shared a common haplotype.
  • Five unaffected individuals were also homozygous, indicating incomplete penetrance of the mutation.
  • Atypical HIBM presentations included quadriceps weakness, proximal weakness, facial weakness, and perivascular inflammation on muscle biopsy.

Implications:

  • The phenotypic spectrum of recessive HIBM is broader than previously understood.
  • Diagnostic criteria for HIBM require revision to encompass atypical presentations.
  • The M712T mutation represents a founder mutation in the Middle East, approximately 1,300 years old, affecting multiple ethnic groups.

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