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Thursday 22nd August 2019

Ageing linked to rare disease protein

14th June 2011

US government researchers have found that a protein linked to a rare genetic disease may hold the key to the normal ageing process.

Old Hands

Children who have the disease progeria age at seven times the normal rate, and this has been linked to the involvement of a specific protein.

Researchers led by Francis Collins of the National Institutes of Health now say that ageing may depend on this protein, which could be tinkered with in normal adults to affect the ageing process.

Collins said the findings had prompted his team to question the view that ageing was just a running down of the body, suggesting that it might be an active biological mechanism.

At the cellular level, ageing actually appears to be triggered, according to the study which was published in the Journal of Clinical Investigation.

Ageing research has focused in recent years on the protective caps on the tips of chromosomes known as telomeres, which have been compared to the tips of shoelaces that stop them from fraying.

Researchers have been trying to understand more about the biological processes that trigger ageing in the hope of developing new treatments for age-related diseases like cancer, heart disease and Alzheimer's.

Cells die eventually once telomeres become too short and frayed through cell division, but scientists do not yet understand how this happens.

Collins, together with colleagues at the National Human Genome Research Institute, found that the same protein found in the toxic premature ageing disorder progeria is also present in normal cell ageing.

Progeria, which used to be known as Hutchinson-Gilford Progeria Syndrome, leads to symptoms normally linked to old age in children, including hair loss, wrinkled skin, clogged arteries and arthritis.

Children who get progeria usually die by the time they reach 13.

The protein, progeria, is caused by mutations in a gene called LMNA.

It is triggered by frayed and shortened telomeres, and signals to the body that the cell is at the end of its useful life.

Understanding this mechanism that is active in ageing could lead to new kinds of treatment, with one study already under way in children with progeria.

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