Human Lifespan Linked to Copy Number Variants According to Study

Human Lifespan Linked to Copy Number Variants According to Study

A research team managed to identify the gene variants which have an influence on the lifespan of an individual. This was achieved through  a broad comparison between the DNA of children and the DNA of adults and elderly patients. Hakon Hakonarson, who is the leader of the study and the director of the Center for Applied Genomics, from Philadelphia, reports that this is the first study that investigates the gene variations in children, that are linked to lifespan. The study was published in the journal PLOS ONE, in late January.

Studies have shown that CNVs (copy number variations) are either losses or gains that rarely occur in the DNA sequence. These have been shown to either lower or raise the risk of a disease onset. The research team used data gathered from more than 7,000 patients aged 18 or below and compared it to data gathered from almost 3,000 Icelandic patients aged 67 or above. The analysis of the gathered data was investigated through the use of microchip arrays. “Our assumption was that CNVs appearing in children but not in the elderly were more likely to be disease-causing, while CNVs that were proportionately higher in older people were more likely to be protective, allowing them to live longer”, said Hakonarson.

Furthermore, the researchers conducted a replication study on approximately 2,000 young patients and 4,700 older patients. After adjusting the results in order to resolve the population stratification, researchers discovered 7 copy number variations that are believed to be significant to lifespan. Out of the 7 copy number variations, 4 are duplications and 3 are deletions. According to the reports, the genes that were impacted by these variations are involved in a process called alternative splicing. Through this process, genes that would normally express a single protein, now express different proteins based on the DNA contained by the gene. Hakonarson said that these results show that there is a possibility for these CNVs to have either beneficial or detrimental effects on the human organism. He notes that there is a lot of work that still needs to be done in this domain. Some of the copy number variations that are present in children could be a possible target for future therapy against short lifespan. Moreover, should these CNVs be incorporated into clinical screening, the mere presence would be an indicator for patients requiring preventive therapy.