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BAK1 gene variation and abdominal aortic aneurysms

✍ Scribed by Bruce Gottlieb; Lorraine E. Chalifour; Benjamin Mitmaker; Nathan Sheiner; Daniel Obrand; Cherrie Abraham; Melissa Meilleur; Tomoko Sugahara; Ghassan Bkaily; Morris Schweitzer


Book ID
102264812
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
137 KB
Volume
30
Category
Article
ISSN
1059-7794

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✦ Synopsis


We sought to examine the role of genetics in the multifactorial disease, abdominal aortic aneurysm (AAA), by studying sequence variation in the BAK1 gene (BAK1) that codes for an apoptotic-promoting protein, as chronic apoptosis activation has been linked to AAA development and progression. BAK1 abdominal aorta cDNA from AAA patients and nondiseased individuals were compared with each other, as well as to the BAK1 genomic sequence obtained from matching blood samples. We found specific BAK1 single nucleotide polymorphism (SNP) containing alleles in both aneurysmic (31 cases) and healthy aortic tissue (5 cases) without seeing them in the matching blood samples. These same BAK1 SNPs have been reported, although rarely (average frequency <0.06%), in reference BAK1 DNA sequences. Based on this and other similar observations, we propose a novel hypothesis postulating that multiple variants of genes may preexist in "minority" forms within specific nondiseased tissues and be selected for, when intra- and/or extracellular conditions change. Therefore, the fact that different BAK1 variants can exist in both diseased and nondiseased AA tissues compared to matching blood samples, together with the rare occurrence of these same SNPs in reference sequences, suggests that selection may be a significant factor in AAA ontogeny.


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A response to: BAK1 gene variation and a
✍ Bruce Gottlieb; Lorraine E. Chalifour; Morris Schweitzer 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 97 KB 👁 2 views

We thank Ku ¨ry et al. [2010] for their letter. They raise a number of issues with regard to our initial article that reported on variations in BAK1 gene (MIM] 600516) sequence expressed in the abdominal aorta (AA) tissue when compared with leukocyte genomic DNA sequence . In a subsequent letter , w

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