telomeres and progerin

A new study was published today as early online edition of the JCI, Journal of Clinical Investigation. It concludes that in normal aging, short or dysfunctional telomeres stimulate cells to produce progerin, which is associated with age-related cell damage.
Researchers from the National Human Genome Research Institute, NIH, Bethesda, Maryland, and the Department of Cell Biology and Molecular Genetics, University of Maryland in the USA have discovered a previously unknown link between Progeria and aging. Their findings provide insights about the relationship between the toxic, Progeria-causing protein known as progerin and telomeres, which protect the ends of DNA within cells until they wear away over time and the cells die.

For the first time, we know that telomere shortening and dysfunction influences the production of progerin," says doctor Leslie B. Gordon, medical director of the Progeria Research Foundation. "Thus these two processes, both of which influence cellular aging, are actually linked."
Prior research has shown that progerin is not only produced in children with Progeria, but that it is produced in smaller amounts in all of us, and progerin levels increase with aging. Independently, previous research on telomere shortening and dysfunction has been associated with normal aging. Since 2003, with the discovery of the Progeria gene mutation and the progerin protein that causes the disease, one of the key areas of research has focused on understanding whether and how Progeria and aging are linked.


R.I.P Leon Botha - 4th June 1985 – 5th June 2011

Leon Botha, a South African artist, died on Sunday from complications related to progeria, a day after his 26th birthday. Botha was one of the longest-living persons documented with the Hutchinson-Gilford Progeria Syndrome.

In 2009, Leon worked with Gordon Clark on a photo series called Who Am I? Transgression, depicting him in theatrical projections of how society might see him. This exhibition still travels around the world. Leon also held a number of art exhibitions, and as a DJ he became widely known through his association with the band Die Antwoord.

read more
Leon Botha

Leon was an inspiration to many people, shared his wisdom and touched many hearts. He will live on through his art and music.