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Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

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Common mitochondrial sequence variants in ischemic stroke.

Christopher D Anderson¹, Alessandro Biffi, Rosanna Rahman

¹Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA.

Annals of Neurology

|September 15, 2010

Summary

This summary is machine-generated.

Common mitochondrial genetic variants, when summed, are associated with ischemic stroke risk and white matter hyperintensity (WMHV) volume. No single variant reached significance, indicating a need for larger studies to pinpoint specific genetic influences on cerebrovascular disease.

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Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

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Published on: February 10, 2023

Area of Science:

Genetics
Neurology
Mitochondrial Biology

Background:

Rare mitochondrial mutations are known to cause neurological disorders, including ischemic stroke.
White matter hyperintensity (WMHV) is a common finding in stroke patients and is associated with cerebrovascular disease.
The role of common mitochondrial genetic variants in sporadic ischemic stroke risk and WMHV is not well understood.

Purpose of the Study:

To investigate the association between common mitochondrial genetic variants and the risk of sporadic ischemic stroke.
To examine the relationship between a genetic score of mitochondrial variants and WMHV in ischemic stroke patients.

Main Methods:

A multicenter mitochondrial genome-wide association study (GWAS) was conducted.
2,284 ischemic stroke cases and 1,728 controls were genotyped for mitochondrial single nucleotide polymorphisms (SNPs).
A genetic score was calculated by summing the contributions of all common mitochondrial variants and tested for association with ischemic stroke and WMHV.

Main Results:

No individual mitochondrial SNP reached statistical significance for association with ischemic stroke in meta-analysis.
A genetic score comprising all common mitochondrial variants showed a significant association with ischemic stroke (OR = 1.13, p < 0.0001).
This mitochondrial genetic score was also associated with WMHV in a subset of stroke patients (p = 0.037).

Conclusions:

An aggregate genetic score of common mitochondrial variants is associated with ischemic stroke risk.
The same mitochondrial genetic score correlates with WMHV in stroke patients, suggesting a role in cerebrovascular disease pathogenesis.
Larger studies are necessary to identify specific mitochondrial sequence variants contributing to cerebrovascular diseases.