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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

Cerebrovascular disorders and genetic polymorphisms: mitochondrial DNA5178C is predominant in cerebrovascular

Ryuichi Ohkubo1, Masanori Nakagawa, Ken-ichi Ikeda

  • 1Third Department of Internal Medicine, Kagoshima University Faculty of Medicine, 8-35-1 Sakuragaoka, Kagoshima, Japan.

Journal of the Neurological Sciences
|June 1, 2002
PubMed

Insights

Mitochondrial DNA 5178cytosine/adenine (mt5178C/A) polymorphism, specifically the mt5178C variant, was more common in Japanese cerebrovascular disorder (CVD) patients. Angiotensin I-converting enzyme (ACE) gene (DCP1) polymorphisms showed no significant association with CVD in this study.

Area of Science:

  • Genetics
  • Neurology
  • Cardiovascular Science

Background:

  • Cerebrovascular disorder (CVD) poses a significant health burden.
  • Understanding the genetic factors contributing to CVD is crucial for Japanese populations.
  • Mitochondrial DNA and angiotensin I-converting enzyme (ACE) gene variations are potential contributors.

Purpose of the Study:

  • To investigate the association between mitochondrial DNA 5178cytosine/adenine (mt5178C/A) and ACE gene (DCP1) polymorphisms and cerebrovascular disorder (CVD) in Japanese patients.
  • To clarify the genetic background of Japanese individuals with CVD.

Main Methods:

  • Genotyping of mt5178C/A and ACE (DCP1) polymorphisms.
  • Comparison of allele frequencies between 127 CVD patients and 294 age-matched normal controls.
  • Statistical analysis to determine significant associations.

Main Results:

  • The mt5178C allele was significantly predominant in CVD patients compared to controls (P<0.01).
  • No significant difference in the frequency of ACE (DCP1) insertion (I) and deletion (D) alleles was observed between CVD patients and controls.
  • No significant association was found for ACE (DCP1) polymorphisms within CVD subgroups.

Conclusions:

  • The mt5178C variant of mitochondrial DNA may be a genetic risk factor for cerebrovascular disorder in the Japanese population.
  • ACE (DCP1) gene polymorphisms do not appear to be significantly associated with CVD in this cohort.
  • Further research with larger sample sizes is warranted to confirm these findings.

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