Several gene variants can influence a person’s potential lifespan by either raising the probability of developing a disease or by providing protection from disease, according to new research from The Children’s Hospital of Philadelphia. Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at Children’s Hospital, led the study, which is the first to look at copy number variants in children that may be linked with human lifespan.
Copy number variations, often referred to as CNVs, are losses or gains in DNA sequence. Although usually rare, CNVs can play a critical role in raising or lowering a person’s risk of disease.
Dr. Hakonarson and his team examined the rates of CNVs in more than 7,300 children aged 18 or younger from the CHOP network, and compared them to 2,701 Icelandic subjects 67 years of age or older. The research team replicated the study in sample involving several thousand more children and older adults. At the end of their analysis they identified seven CNVs — three of which were caused by deletions in a DNA sequence and the other four by duplications in the sequence.
Interestingly, the specific genes impacted by the copy number variations are involved in an important biological mechanism called alternative splicing — modifications inside a gene that result in a protein different from what would otherwise come from that gene.
“Possibly in a more global way than previously thought, some of these CNVs may have favorable effects, whereas others are bad for you and predispose you to diseases,” said Dr. Hakonarson.
More research is needed, and Dr. Hakonarson said that the duplicated CNVs he and his team found may represent novel targets implicated in short lifespan. Eventually, he added, if CNVs are incorporated into early clinical screening tests, their presence could be prognostic markers indicating which patients should take individualized preventive health measures.
More information on this study is available on the Research Institute’s web site.