Variant of LMNA Associated With Survival to Old Age

Via Extreme Longevity: "Progeria is a rare disease in which children age very rapidly, acquire diseases of the elderly and typically die in teenage years with the phenotypical appearance of the elderly. The disease has been found to occur due to mutations in the LMNA gene which codes for the nuclear envelope proteins called lamin-A and lamin-B. These proteins are responsible for the security and integrity of the nuclear membrane surrounding the cell's DNA. When these proteins are mutated the DNA is poorly protected and quickly and extensively damaged leading to accelerated aging. In this study the researchers hypothesized that just as certain single nucleotide polymorphisms (SNPs or mutations) cause individuals with progeria to age rapidly, perhaps other variants of the gene would protect people from aging and lead to extreme longevity. To test this hypothesis, the researchers compared 16 SNP variants of the LMNA gene in persons over age 95 versus genetically matched younger controls. They detected a specific 4-SNP variation of the gene appeared to be more frequent in the elderly. They then looked for the presence of this haplotype in several other genetic databases of centenarians and again found a higher frequency than chance of the same mutation. The authors concluded 'these results suggest that LMNA variants may play a role in human lifespan.'"



Wow, even more data for DNA damage and aging! Would you suspect more of the effect has to do with the abnormal proteins that compromised cells would produce or the shortage of normal exome proteins?

Posted by: Patrick at February 24th, 2012 6:48 PM

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