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Population screening for association of mitochondrial haplogroups BM, J, K and M with multiple sclerosis:

M Houshmand1, M H Sanati, F Babrzadeh

  • 1Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. massoudh@nrcgeb.ac.ir

Multiple Sclerosis (Houndmills, Basingstoke, England)
|December 3, 2005
PubMed
Abstract

Insights

Mitochondrial DNA (mtDNA) haplogroup BM was found in significantly higher proportions in multiple sclerosis (MS) patients compared to controls. Haplogroup J also showed a slight association with MS risk.

Area of Science:

  • Neuroimmunology
  • Genetics
  • Mitochondrial DNA research

Background:

  • Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS) affecting young adults.
  • Previous research suggests a potential link between MS and mutations in mitochondrial DNA (mtDNA).

Purpose of the Study:

  • To investigate the association between specific mitochondrial DNA (mtDNA) haplogroups and the risk of developing multiple sclerosis (MS).

Main Methods:

  • The study screened 246 individuals using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method.
  • Mitochondrial haplogroups (BM, J, K, and M) were analyzed in 70 MS patients and 176, 149, and 70 normal controls for specific haplogroups.

Main Results:

  • Haplogroup BM was observed in approximately 26% of MS patients, compared to about 13% in normal controls.
  • A statistically significant increase in haplogroup J was noted in MS patients (20%) versus controls (9.39%, P=0.049).
  • Haplogroups M and K did not show a significant association with MS risk.

Conclusions:

  • Mitochondrial DNA (mtDNA) haplogroup BM is associated with an increased proportion in multiple sclerosis (MS) patients.
  • Haplogroup J may play a role in MS susceptibility.
  • Further research is warranted to elucidate the role of mtDNA haplogroups in MS pathogenesis.

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