From: J Corbally (icorb@indigo.ie)
Date: Fri Apr 18 2003 - 16:37:57 MDT
Another one of those small but important gems that slip under the radar in
these troubled times;
http://news.bbc.co.uk/2/hi/health/2952417.stm
>Ageing gene discovered
>Scientists believe they have discovered the gene responsible for a rare
>condition which makes children age up to 10 times faster than normal.
>Children with Hutchinson-Gilford Progeria syndrome (HGPS) usually die at
>around the age of 13. There is currently no cure available
Looks like it might have wider reaching consequences also;
>"This is going to be very important in understanding the ageing process
>and this disease"
>
>Professor Peter Clayton, Great Ormond Street Hospital
>French researchers say pinpointing the gene responsible for HGPS will help
>develop therapies for the condition, and even screening programmes which
>could check to see if children have the defective gene.
>Cell linings
>They focussed on the LMNA gene. Mutations of the gene have been linked to
>another condition called mandibulo-acral dysplasia, which shares some
>characteristics of HGPS.
>Researchers found just one tiny abnormality - a genetic mistake in a
>segment of DNA which carries crucial information to a cell's
>protein-construction site.
>The LMNA mutation appears to affect the way the relevant information is
>extracted from a gene so that the end of this segment is cut off.
>This means the Lamin A protein is not produced properly in some cells,
>although it production of Lamin C does not appear to be affected.
>The LMNA is a "dominant" mutation, so children who inherit a defective
>copy of the gene from either parent develop HGPS.
>Dr Nicolas Lévy of the Hôpital d'enfants de la Timone in Marseille,
>France, who led the research, said: "Without knowing what caused this type
>of progeria, we had little idea how we might someday treat it.
>"Identifying the gene responsible for the disease is a critical step
>toward possible therapies."
Progeria is I believe one of the worst diseases I know of. It's not only a
killer of children, but a slow killer. They get to see what it is they've
been cheated out. It's a tragedy for a child to die in an accident, but
for them to have to go through 14 or 15 years of watching their youth slip
away at 7-10 times the normal rate is horrific, and galling.
This is a disease that as the Texans (apparently) say, " It Needs Shootin' "
James...
"If you can't take a little bloody nose, maybe you ought to go back home and
crawl under your bed. It's not safe out here. It's wondrous, with treasures
to satiate desires both subtle and gross. But it's not for the timid."
-Q, Star Trek:TNG episode 'Q Who'
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