Have you
heard of a boy of 19 years who looks like 70 years old man…? Yes, it is true
with people with an extremely rare genetic disease. Hutchinson-Gilford projeria
is named after Dr Jonathan Hutchinson who described it first and Gilford (1904)
who coined the term. These people show accelerated ageing process and show
respiratory troubles, cardiovascular disorders and arthritic conditions.
HUTCHINSON
GILFORD
Projeria is
a rare disorder affecting only one in 4 million children and only about 100
cases so far have been reported in the world.
There seem
to be no cure for this disease. Most children with projeria do not live beyond
their early teenage; maximum life time reported is 20 years. The trouble is due
to a genetic mutation of a gene called Lamina
A. the gene is responsible for producing structural proteins, lamins, which
gives nucleus its shape. This gene was observed in chromosome 1 by Erikson et.
al. in 2003.
FEATURES OF
PROJERIA:
Ø Disproportionately large head
Ø Dwarfism
Ø Baldness
Ø Pinched nose
Ø Protruding upper incisors
Ø Incomplete extension of knees and
elbows
Ø Stiffness of joints
Ø Aged look (wrinkled)
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