PROGERIA...

Here comes the blog from our team. I am starting with an incurable genetic disorder PROGERIA which is a challenge to the world of medicine. The example I posted at the end of this post really moved me…Let us pray for the soon recovery of many tiddlers in the world who are suffering from this.

Introduction:

Progeria (also known as "Hutchinson-Gilford progeria syndrome ") is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an AD disorder which causes premature aging. It is never transmitted from parent to child since the individuals with progeria do not live long enough to reproduce. A disorder of this type is referred to as a genetic lethal. All new cases are due to new mutations. 1 in 18 million babies are born with this condition, and those affected will have the lifespan around 13years. It is a genetic condition that occurs due to mutations and usually not inherited.

Cause:

Hutchinson-Gilford progeria syndrome (HGPS) is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene, replacing cytosine with thymine, creating an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope.

Diagnosis:

In HGPS patients, the cell nucleus has dramatically aberrant morphology (bottom right) rather than the uniform shape typically found in healthy individuals (top right).

Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test.

Treatment

No treatments have been proven effective. Most treatment focuses on reducing complications (such as cardiovascular disease) with heart bypass surgery or low-dose aspirin. Children may also benefit from a high-calorie diet.

Growth hormone treatment has been attempted

A type of anticancer drug, the farnesyltransferase inhibitors (FTIs), has been proposed, but their use has been mostly limited to animal models. A Phase II clinical trial using the FTI Lonafarnib began in May 2007.

Prognosis: There is no known cure. Few people with progeria exceed 13 years of age. At least 90% of patients die from complications of atherosclerosis, such as heart attack or stroke.

          Mental development is not affected. The development of symptoms is comparable to aging at a rate six to eight times faster than normal, although certain age-related conditions do not occur. Specifically, patients show no neurodegeneration or cancer predisposition. They do not develop "wear and tear" conditions commonly associated with aging, like cataracts and osteoarthritis

PLEASE CLICK ON THE FOLLOWING LINK TO KNOW MORE ABOUT PROGERIA

http://www.dailymail.co.uk/health/article-456627/Girl-9-ages-times-faster-normal-try-new-drug.html

 Reference :

1. www.wikipedia.org

2. www.carolguze.com