SCIENTISTS studying a rare disease which causes people to age prematurely believe they have made a genetic breakthrough which could lead to new treatment for conditions such as cancer, diabetes and Alzheimer’s.
The US researchers say genetic mutations which are a factor in Werner syndrome, a dramatic condition where sufferers age rapidly in early adulthood, could have wider implications for the medical profession.
This has implications beyond Werner syndrome, as it identifies a central mechanism of ageingProfessor Juan Carlos Izpisua Belmonte
The syndrome causes wrinkly skin and greying hair at a young age, along with a significantly greater risk of diseases such as cancer.
Using stem cell and gene editing technologies, the team at the Salk Institute for Biological Studies in California found that this accelerated ageing process caused bundles of DNA known as hererochromatin to break up.
The discovery, they hope, could lead to ways of countering age-related physiological declines by preventing or reversing damage to heterochromatin.
The lead researcher of the project said it even opened up the possibility that the damage caused by age-related diseases could ultimately be “reversed”.
Professor Juan Carlos Izpisua Belmonte, from the institue’s Gene Expression Laboratory, explained: “Our findings show that the gene mutation that causes Werner syndrome results in the disorganisation of heterochromatin, and that this disruption of normal DNA packaging is a key driver of ageing.
“This has implications beyond Werner syndrome, as it identifies a central mechanism of ageing – heterochromatin disorganisation – which has been shown to be reversible.”
The study, published in the latest edition of the Science journal, looked at the genetic disorder where they suffer age-related diseases early in life, including cataracts, type 2 diabetes, hardening of the arteries, osteoporosis and cancer.
Werner syndrome is caused by a mutation to the RecQ helicase-like gene, known as the WRN gene for short, which generates protein.
Although its extreme rarity means it affects less than one in 100,000 people, it is more common in Japan than anywhere else in the world. Most people with the syndrome live to their late forties or early fifties. Previous studies showed that the normal form of the protein is an enzyme that maintains the structure and integrity of a person’s DNA.
When the protein is mutated in Werner syndrome it disrupts the replication and repair of DNA and the expression of genes, which was thought to cause premature ageing.
The study sought to determine precisely how the mutated WRN protein causes so much cellular mayhem.
Prof Belmonte added: “Our study connects the dots between Werner syndrome and heterochromatin disorganisation, outlining a molecular mechanism by which a genetic mutation leads to a general disruption of cellular processes by disrupting epigenetic regulation.
“More broadly, it suggests that accumulated alterations in the structure of heterochromatin may be a major underlying cause of cellular ageing.
“This begs the question of whether we can reverse these alterations – like remodeling an old house or car – to prevent, or even reverse, age-related declines and diseases.”