Signals Blog

A child with HGPS (creative commons)

Dr. William Stanford, The Ottawa Hospital, is working with colleagues to help patients with Hutchinson-Gilford progeria syndrome (HGPS). They have shown that cells from individuals with HGPS – also called progeria – can be genetically reprogrammed, turning them into stem cells that don’t show any signs of aging.

According to the news release issued by the hospital, the team “directed the HGPS stem cells to produce new blood vessels cells, and were able to observe the start of the aging process in fast forward.” It is expected that their work will improve the understanding of the molecular basis of aging, while identifying new treatments for HGPS and other age-related diseases and cardiovascular disease – the usual cause of death in children with HGPS. Their work is published in Aging Cell.

Taking a different approach, researchers from Houston Methodist Research Institute in Texas were able to reverse many markers of aging in the cells of children with HGPS by focusing on the telomeres. Telomeres shorten with age and when they reach a critical length, cells stop dividing or undergo apoptosis (cell death).

Dr. John Cooke and his colleagues noticed that children with HGPS had much shorter telomeres. The team set out to lengthen the telomeres using RNA therapeutics “which delivers small molecules into cells to alter their gene expression.” According to Medical News Today, there was a “dramatic effect on the ability of the cells to proliferate” after only one treatment. Now the team is working to develop a therapy.

HGPS is a rare genetic condition that resembles rapid aging and begins in childhood. Kids with HGPS look normal when they are born, but don’t put on sufficient weight and soon take on a distinct appearance: prominent eyes, a small chin and protruding ears, a rounded thin nose and thin lips.

The syndrome causes other physical features such as baldness, wrinkled skin, hardened blood vessels, fragile bones, joint abnormalities and more, but does not affect intellectual development or the ability to sit, stand or walk. These children have a shortened lifespan that usually ends with a fatal heart attack or stroke during the teenage years.

A number of films and novels have featured this condition, including the Academy Award-winning movie The Curious Case of Benjamin Button, starring Brad Pitt, who, you may remember, ages in reverse. He is born looking old and dies looking young, but with a chronological age of 84 (so only loosely based on the condition itself).

In 2003, researchers identified the genetic mutations responsible for HGPS, estimated to affect one in 8 million newborns worldwide. A team led by the National Human Genome Research Institute “determined the most common cause of progeria is a single-letter ‘misspelling’ in a gene on chromosome 1 that codes for lamin A, a protein that is a key component of the membrane surrounding the cell’s nucleus. Specifically, the researchers found that 18 out of 20 children with classic progeria harbored exactly the same misspelling in the lamin A (LMNA) gene, a substitution of just a single DNA base – a change from cytosine (C) to thymine (T) – among the gene’s 25,000 base pairs. In addition, one of the remaining progeria patients had a different single base substitution – guanine (G) to adenine (A) – just two bases upstream. In every instance, the parents were found to be normal indicating that the misspelling was a new, or “de novo,” mutation in the child.” Read more about this here.

Understanding what causes aging is a popular scientific pursuit and especially crucial these days with an aging global population that is susceptible to a number of diseases – Alzheimer’s, other neurodegenerative diseases, many forms of cancer and metabolic disease/type II diabetes – that affect the elderly, impair global annual economic growth and put a strain on health-care systems.

While some may debate whether scientists should attempt to “cure” aging, advancing our understanding of how cells age (cellular senescence) can only be a good thing. As author C. S. Lewis stated: “How incessant and great are the ills with which a prolonged old age is replete.”



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Stacey Johnson

Stacey Johnson

For almost 20 years, Stacey has been providing strategic communications counsel to government, corporate, technology and health organizations. Prior to that, Stacey was at the CTV Television Network, first as a researcher, then as a story producer for “Goldhawk Fights Back,” a special ombudsman segment that aired weekly on the National News and Canada AM. Before joining CCRM as the Director, Communications and Marketing, Stacey was the Director of Communications for the Canadian Arthritis Network. Stacey is editor of Signals. You can follow Stacey on Twitter @msstaceyerin.