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Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using

S Finnilä1, I E Hassinen, K Majamaa

  • 1Department of Neurology, University of Oulu, P.O. Box 5000, FIN-90014, Oulu, Finland.

Mutation Research
|June 19, 2001
PubMed

Insights

Mitochondrial DNA (mtDNA) haplogroup U may increase occipital stroke risk in migraine patients. Subcluster U5 was significantly associated with migrainous stroke, and unique mutations were identified.

Area of Science:

  • Genetics
  • Neurology
  • Mitochondrial Biology

Background:

  • Mitochondrial DNA (mtDNA) haplogroup U, specifically the 12308A>G polymorphism, is investigated as a potential risk factor for occipital stroke in migraine patients.
  • Occipital stroke in migraine is a serious condition, and understanding its genetic underpinnings, particularly involving mtDNA, is crucial for risk assessment.

Purpose of the Study:

  • To investigate the association between mtDNA haplogroup U and occipital stroke in migraine patients.
  • To identify specific mtDNA haplogroups and mutations linked to migrainous occipital stroke.

Main Methods:

  • Sequencing of the complete mtDNA coding region in 14 patients with occipital stroke and the 12308A>G polymorphism, alongside population controls.
  • Phylogenetic network analysis of mtDNA haplogroups U and K, including subclusters U2, U4, U5, U7, and cluster K.
  • Conformation sensitive gel electrophoresis (CSGE) and direct sequencing for mutation detection.

Main Results:

  • Five out of 14 patients with migrainous stroke belonged to mtDNA subcluster U5 (P=0.006).
  • The phylogenetic network revealed subclusters U2, U4, U5, U7, and cluster K.
  • Unique mutations, including two potentially pathogenic tRNA mutations, were identified in patients with occipital stroke.

Conclusions:

  • Mitochondrial DNA haplogroup U, particularly subcluster U5, may be a risk factor for occipital stroke in migraine.
  • The study highlights the utility of CSGE and phylogenetic analysis in identifying mtDNA mutations and clusters relevant to neurological disorders.
  • Further research into specific mtDNA mutations could elucidate mechanisms underlying migrainous occipital stroke.

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