Progeria Mike Choi

How does Progeria occur? 90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together.

History Progeria was first described in 1886 by Jonathan Hutchinson and also described independently in 1897 by Hastings Gilford.

Can Progeria be passed to future generations? It cannot be passed to future generations because it is due to a rare gene change which happens purely by chance.

Type of Mutation Mutation in the LMNA gene on chromosome 1 The mutated form of lamin A is commonly known as progerin.

Where does it occur? Lamin A The LMNA gene codes for two proteins – lamin A and lamin C In HGPS, the LMNA gene produces abnormal form of the lamin A protein

phenotypic effects to the human body Growth failure Loss of body fat Loss of hair Aged-looking skin Stiffness in the joints Hip dislocation Heart disease

Diagnosis aging skin, loss of hair, stiffness of joints…etc can be examined through a genetic test

Treatment hope No treatment known so far Mostly focuses on reducing complications like heart bypass surgery or low-dose aspirin

References