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Lifespan Effects

In combination, some very rare genetic mutations may take years off people's lives, Science reports.

Researchers from Harvard University and the Russia-based firm Gero sifted through UK Biobank and other data to look for rare protein-truncating variants that affect lifespan. Previous work has suggested that between about a quarter and a third of the variation in human lifespan is heritable. As they reported in the journal eLife recently, the researchers say the genetic influence on lifespan is governed by both common variants, but also these ultra-rare variants.

In particular, they uncovered an average of six ultra-rare variants per genome and estimated that each one leads to about a six-month decrease in lifespan. Science notes that the more mutations someone has, the more likely that person is to develop an age-related condition early or die, though co-senior author Vadim Gladyshev from Harvard tells it that which variants are present does make a difference.

"The role of ultra-rare damaging mutations that decrease lifespan and healthspan has been largely overlooked," Gladyshev says in a statement. "They are different in different people, but in combination, they exhibit an unexpectedly large effect on lifespan."