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Hutchinson-Gilford Progeria Syndrome

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Rebekah Goltz

on 6 May 2010

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Transcript of Hutchinson-Gilford Progeria Syndrome

Hutchinson-guilford progeria syndrome also known as "the aging disease" children are usually diagnosed at the age of 18 months when
the progeria features become more visible at birth about 3 years old symptoms include:
failure to grow
small face and jaw
diseases usually found in older people
only 64 children world wide have this disease It is caused by a point mutation in position
1824 of the LMNA gene, which is found on Chromosome 1. That replaces
cytosine with thymine so the protein Lamin
A is unstable most children with this disease
do not pass it on to their children
because they do not live long enough
to have children most children do not live past the age of 13 because
they die of a heart attack or a stroke Treatment:
low-dose aspirin: used to help prevent heart attacks
Physical and Occupational Therapy: helps with stiff joints
feeding tube: helps them get the nutrients they need because kids with progeria usually have a low appetite

Recently farnesyltransferase inhibitors (FTIs) have shown that
they may help correct the mutated cell that cause progeria The End
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