Rare mutation that causes short stature may shed light on ageing

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Rare mutation that causes short stature may shed light on ageing
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A rare genetic variant that causes short stature in Laron syndrome may also extend people's lives by protecting them from heart disease

People with a rare genetic mutation that causes short stature and may also make them live longer are helping shed light on the causes of, one of the most common causes of death, which may explain why their life expectancy exceeds that of the general population.

“When you grow old and you start breaking down, you don’t want to spend energy on growth, you want to spend energy on preventing your breakdown,” saysThe question of whether the trade-off also happens in people can be studied via a rare genetic condition called Laron syndrome, which was first identified in a group of Ecuadorian people whose ancestors left Spain during the Inquisition several centuries ago.

People with the mutation also had higher levels of a compound called low-density lipoprotein, also known as “bad cholesterol” as it is thought to predispose people to artery plaques that can lead to heart attacks. But only 7 per cent of the people with Laron syndrome had such plaques, compared with 36 per cent of their relatives.

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