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Published on: February 23, 2020
BAK1 gene variation and abdominal aortic aneurysms.
Bruce Gottlieb1, Lorraine E Chalifour, Benjamin Mitmaker
1Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, Montréal, Québec, Canada. bruce.gottlieb@mcgill.ca
Human Mutation
|June 11, 2009
Summary
Genetic variations in the BAK1 gene were found in abdominal aortic aneurysm (AAA) tissues but not in matching blood samples. This suggests gene selection may play a role in AAA development.
Area of Science:
- Genetics
- Cardiovascular Disease Biology
Background:
- Abdominal aortic aneurysm (AAA) is a complex disease with genetic and environmental factors.
- Chronic activation of apoptosis is implicated in AAA development and progression.
- The BAK1 gene encodes a protein that promotes apoptosis.
Purpose of the Study:
- To investigate the role of genetic variations in the BAK1 gene in the multifactorial disease, abdominal aortic aneurysm (AAA).
- To compare BAK1 gene sequences in AAA patients and healthy individuals.
Main Methods:
- Compared BAK1 cDNA from AAA patients and healthy individuals' abdominal aorta.
- Compared aortic BAK1 genomic sequences with matching blood samples.
- Analyzed single nucleotide polymorphisms (SNPs) in the BAK1 gene.
Main Results:
- Specific BAK1 single nucleotide polymorphisms (SNPs) were identified in both aneurysmal and healthy aortic tissues.
- These BAK1 SNPs were absent in the matching blood samples from the same individuals.
- The identified BAK1 SNPs are rare in reference DNA sequences (<0.06% frequency).
Conclusions:
- The presence of distinct BAK1 variants in aortic tissue compared to blood suggests tissue-specific genetic differences.
- A novel hypothesis proposes that pre-existing "minority" gene variants in tissues can be selected under changing conditions.
- Gene selection may be a significant factor in the development (ontogeny) of abdominal aortic aneurysms.
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