Progeria (Hutchinson-Gilford syndrome)

progeriaProgeria is a disease which the body’s natural aging process is dramatically accelerated.

Prevalence: 1 in 8 million babies are born with this condition.

Genetics: The disease is genetic, however it occurs as a sporadic new mutation and is not usually inherited.

Progeria is caused by a point mutation where Cytosine is substituted for Thymine creating an unusable type of protein called Lamin A.

Lamin A is part of the building blocks of the nuclear envelope. This results in abnormal cellular morphology.progeria-cells

Treatment:

No treatments are yet effective.

Clinical treatment trials with farnesyltransferase inhibitors (FTIs), a type of anticancer drug, began early last year.

Brown, W. Ted; Berglund, Peter;  Boehnke, Michael; Collins, Francis S.Csoka, Antonei B.; Dutra, Amalia; Durkin, Sandra; Erdos, Michael R.; Eriksson, Maria;  Glover, Thomas W.; Gordon, Leslie B.; Glynn, Michael W.; Moses, Tracy Y.; Pak, Evgenia; Scott, Laura; Singer, Joel; Robbins, Christiane M. Recurrent de novo point mutations in lamin A cause Hutchinson|[ndash]|Gilford progeria syndrome. 2003.  Nature, 423 (6937) :293-298.

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