Research on Aging – New Discoveries by the National Human Genome Research Institute

Researchers at the National Human Genome Research Institute (NHGRI) have found that a genetic splicing mechanism is a trigger for both premature aging syndrome and normal cellular aging. This new study provides insights into how progerin may participate in the normal aging process. They published the results of their study on June 13, 2011 in the early online edition of the Journal of Clinical Investigation. The study investigates the interaction between a toxic protein called progerin and telomeres.

Telomeres cap the ends of chromosomes. When telomeres degrade during cell division, there is a point when this wear results in the cessation of cell division and cell death.  The NHGRI researchers discovered that short or dysfunctional telomeres activate production of progerin. The production of progerin is associated with age-related cell damage. Progerin is a mutated version of a normal cellular protein called lamin A. ( encoded by the normal LMNA gene ). Lamin A contributes to maintaining the normal structure of a cell’s nucleus.

The new information is more interesting when connected with a 2003 study by NHGRI researchers.  In the 2003 study it was discovered that a mutation in LMNA causes the rare premature aging condition, progeria, formally known as known as Hutchinson-Gilford progeria syndrome.

Francis S. Collins, M.D., Ph.D., a senior author of the current paper comments, “Connecting this rare disease phenomenon and normal aging is bearing fruit in an important way. This study highlights that valuable biological insights are gained by studying rare genetic disorders such as progeria. Our sense from the start was that progeria had a lot to teach us about the normal aging process and clues about more general biochemical and molecular mechanisms.”

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For more about Hutchinson-Gilford progeria syndrome, go to

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