The Science of Aging: searching for a solution to Progeria
HGPS is caused by a single genetic mutation that results in the production of a faulty protein that makes up the structural scaffolding of the cell nucleus. This scaffolding, called the nuclear lamina, has many critical functions besides maintaining the shape of the nucleus, such as controlling gene expression. Here a nucleus from an HGPS patient is shown (left) with an outline demonstrating the abnormal nuclear shape caused by the mutant protein as opposed to the normal shape (right).
Imagine a young child, who, like many other
children is new to the world with lots of time
to learn and grow. Only, this particular child
is lacking something so vital that they are unable to experience life and grow like other
children. He is balding so much that superficial veins surrounding his head are visible;
his arms and skin are so thin because very
little, if any, fat is stored to insulate them; and
his skin is wrinkled so that it looks as if he is
many times his actual age. This is no ordinary
disease, yet it is caused by a single genetic mutation. This is Hutchinson-Gilford progeria
syndrome (HGPS), a rare and fascinating disease. Research on HGPS is currently beingconducted on campus by Cell and Developmental Biology Assistant Professor Kan Cao.
Nuclei of HGPS fibroblast cells stained with several fluorescent dyes. The green dye indicates the nuclear lamina, while the blue dye indicates DNA. A potential treatment for HGPS was applied to these cells for several weeks, clearly improving the abnormal shape of the nucleus.
Cao and her team, who are now based
in the Bioscience Research Building, are currently investigating the cellular mechanisms
involved in HGPS, which could hopefully also
shed light on common diseases that could be
linked with HGPS and regular aging, such as
cardiovascular diseases, obesity and even
Type II diabetes. "We want to look for more
effective treatments for progeria based on
what we know," she said. To this end, Cao's
lab employs and integrates many diverse
biological disciplines, including cellular and
molecular biology, biochemistry, genomics
and bioinformatics. Funding for her research
comes from a variety of sources, including the NIH, the Progeria Research Foundation
and the Maryland Stem Cell Research Commission.