progeria presentation

Progeria (HGPS)Bayan HammoudehBiology Period 9

What is Progeria?

It is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life.

Children with Progeria generally appear normal at birth. By 12 months, signs and symptoms, such as slow growth and hair loss, begin to appear.

The average life expectancy for a child with Progeria is about 13, but some with the disease die younger and some live 20 years or longer.

How is Progeria inherited?

researchers have discovered a single gene mutation responsible for Progeria.

HGPS is caused by a mutation in the gene called LMNA. Researchers now believe that the defective Lamin A protein makes the nucleus unstable.

That cellular instability appears to lead to the process of premature aging in Progeria.

What chromosome does it affect?

HGPS is a “sporadic autosomal dominant” mutation

It affects chromosome 1. It is a substitution mutation in one allele of chromosome 1.

The allele that is substituted is usually a cytosine and it is substituted by a thymine.

Treatments

There is no known cure for Progeria

The child usually just takes medication to get rid of or slow down the symptoms of Progeria.

Progeria Video

http://www.youtube.com/watch?v=8D4S3pDjPiU

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