PROGERIAHutchinson-Gilford syndrome

Rishika Pandey Kriti Bhatia

What is Progeria??

Very rare, progressive genetic disorder that causes accelerated aging in children, beginning in their first two years of life. Mental functions are perfectly normal.

Mutations in the LMNA(lamin A) gene. Children appear normal at birth.

1st year: symptoms start appearing. Heart problems or strokes are the eventual

cause of death in most children with progeria. (average life expectancy is 13 years)

There's no cure ongoing research

Cause??

A mutation in the gene called LMNA. The LMNA gene produces the lamin A protein

which is the structural scaffolding that holds the nucleus of a cell together.

The abnormal lamin A protein that causes Progeria is called progerin. 

Progerin makes the nucleus unstable.  That cellular instability leads to the process of

premature aging and disease in Progeria. 

Symptoms Slowed growth, with below-average height and

weight Narrowed face, small lower jaw, thin lips and

beaked nose Head disproportionately large for face Prominent eyes and incomplete closure of the

eyelids Hair loss, including eyelashes and eyebrows Thin, spotty, wrinkled skin Visible veins High-pitched voice

Signs and symptoms also include health issues:

Hardening of skin on trunk and extremities (similar to scleroderma)

Delayed and abnormal tooth formation Hearing loss Loss of fat under the skin and loss of muscle

mass Fragile bones Stiff joints Insulin resistance Severe progressive heart and blood vessel

(cardiovascular) disease

Frequency & Location 1 in 4 - 8 million newborns. Currently identified children living with

Progeria: 118 in 41 countries. Affects both sexes and all races.

Progeria and Aging

We all make a little bit of progerin, the

disease-causing protein in Progeria.

Progerin is also linked to telomere dysfunction. 

Telomeres are proteins that play a major role

in cellular aging.

Inheritance HGPS is not usually passed down in families.

HGPS is a “sporadic autosomal dominant mutation”.

For parents who have already had a child with Progeria, the chances of it happening again to those parents is much higher – about 2-3%.

Diagnosis Now that the gene mutation has been

identified, The Progeria Research Foundation has created a Diagnostics Testing Program.

It’s now possible to look at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS.

Drugs May 2014: Study Finds Trial Medications

Increase Estimated Lifespan in Children With Progeria

Farnesyltransferase inhibitor (FTI) can extend the lives of children with Progeria by at least one-and-a-half years.

Two additional drugs: pravastatin and zoledronate.

Farnesyltransferase inhibitors (FTIs), originally for cancer capable of reversing the dramatic nuclear structure abnormalities.

Progeria Research Foundation (1999) Established by the parents of a child with

Progeria, Drs. Leslie Gordon and Scott Berns.

Since that time, PRF has been the driving force behind the Progeria gene discovery and the first-ever Progeria drug treatment.

Resources http://www.progeriaresearch.org www.wikipedia.org www.mayoclinic.org