A few, thankfully few, children have a genetic disease called progeria. These children age very rapidly and look in their 90s as young children. A couple that are doctors had such a child and formed the Progeria Research Foundation http://www.progeriaresearch.org/index.shtml .
This group interested Francis Collins of the National Human Genome Research Institute (NHGRI) in Bethesda, Maryland who was one of the key players in deciphering the human genome into looking for the gene that causes this disorder. He and his group found it in one year. Now there is a new development, a drug that may reduce the effects of this genetic mutation.
The mutations that cause this disease affect the protein lamin A which appears to be a structural protein in the cell nucleus. The mutant protein causes the cell nuclei of HGPS patients bulge in odd ways, apparently because the abnormal lamin A generated by the mutation accumulates near the nuclear membrane and distorts it. Enzymes called farnesyltransferases help lamin A get to the nuclear membrane by attaching the lipid farnesyl to the protein at a specific place. This makes the protein more hydrophobic and able to attach to the lipid membrane of the cell nucleus. Chemicals that inhibit farnesyltransferases are being studied to keep farnesyltransferases from activating cancer promoting proteins. It turns out in two new studies that these cancer fighting chemicals keep mutant lamin A from distorting cell nuclei. There is hope that such drugs might cure or reduce the severity of progeria.
But, if similar things happen as we all age then could these drugs make aging less painful?
No comments:
Post a Comment