Understanding this rare disease could help treat aspects of aging

Joanne Laucius, Ottawa Citizen 3 minute read January 30, 2020

Young Indian progeria sufferer Rupesh (C) sits with his mother Shanti Devi (L) and younger brother Vakil (R) at Allahabad District Magistrates Office in Allahabad on May 2, 2017, as they seek government financial support for his treatment. 21 year old Rupesh who comes from a village on the outskirts of Allahabad suffers from progeria disease, also known as Hutchinson-Gilford progeria syndrome (HGPS), which causes premature aging as a result of a genetic condition it affects some 1 in every 4 million births across the world. SANJAY KANOJIA / AFP via Getty Images

Progeria, also known as Hutchinson-Gilford Progeria syndrome, is a very rare disease, representing about one in six million births.

Progeria is aging on steroids. Babies with the syndrome are born without complications, but within a year or two, they’re not growing normally. They lose their hair and develop wrinkles. Most patients die before they leave their teens of heart attacks or stroke.

It would appear that understanding progeria and figuring out how to slow down the clock for progeria patients could be a key to treating aging itself. But while progeria has offered researchers a number of insights, the parallels between progeria and aging are not exact, said William Stanford, a senior scientist in regenerative medicine at the Ottawa Hospital Research Institute and a professor of cellular and molecular medicine at the University of Ottawa.

For example, plaque build-ups in the arteries of progeria patients in their teens look like those of a heart patient in their 90’s. Progeria patients produce an abnormal form of a structural protein expressed in all cells. This abnormal protein known as progerin is also found in almost everyone in their 70s and 80s.

There are other differences between progeria patients and aging people. People with progeria don’t show the same kidney and liver decline as older people, for example.

Research by Stanford and his colleagues has found it is possible to “reprogram” the progeria cells and essentially reset the clock. However, while this works in a culture dish, it has not progressed to animal studies, let alone human trials. A drug can slow down the process of aging on a cellular level, but it corrects only some of the cellular defects, not all.

“The way I see it, there’s a whole laundry list of things that go wrong with aging,” said Stanford.

In the past decade, a cocktail of three different drugs that reduces Progerin accumulation combined with better medical care has helped extend the lives of progeria patients by at least two years. But treating ordinary people with the same drugs won’t extend their lives.

Some of the insights gained by studying progeria may have benefits for treating heart disease in the general population, and that’s a good thing, considering that heart disease is one the top causes of death in Canada, said Standford. But that knowledge may not extend to treating other age-related illnesses.