About Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Untargeted Basic Cell Research may Help Find Treatment for 'Untreatable' Progeria

by Kathy Jones on September 27, 2012 at 7:45 PM
Font : A-A+

 Untargeted Basic Cell Research may Help Find Treatment for 'Untreatable' Progeria

Positive results from a clinical drug trial at Boston Children's Hospital for the previously "untreatable" rapid aging disorder in children known as progeria have been announced.

A paper published Monday in the Proceedings of the National Academy of Sciences (PNAS) reports that the use of farnesyl transferase inhibitors (FTI) significantly slows the progress of progeria, a rare and until now "untreatable" lethal genetic disorder. Also known as Hutchinson-Gilford Progeria Syndrome (HGPS), progeria has been described as out-of-control rapid aging in children. A ""normal"" baby born with HGPS will stop growing by 16-18 months and quickly develop signs of old age including hair loss, thin skin, osteoporosis and, most dangerously, progressive arteriosclerosis. By 10 years of age progeria children appear to be 80. The PNAS paper apparently shows a significant slowing of bone loss and blood vessel blockage.

Advertisement

This clinical trial grew out of the identification of the defective progeria gene, LMNA, in 2003 through the Human Genome Project and the laboratory of current NIH Director Francis Collins. But the link to defective proteins called lamins that make up the envelope surrounding the cell nucleus came about through "untargeted" basic cell biology research. Veteran lamin researchers remember having their grant applications dismissed by review panels as "boring" and irrelevant. But basic work by Robert Goldman of the Northwestern University School of Medicine and other nuclear lamin researchers around the world revealed that a greasy tag molecule called farnesyl accumulates on defective Lamin A proteins, eventually warping the structure of the entire nuclear envelope and disrupting the orderly production of genetic messages in the nucleus that direct normal growth.

The identification of the defective LMNA gene transformed progeria into a "laminopathy," a now growing class of diseases caused by problems with the once-irrelevant nuclear lamins. "Normal" aging is thought to involve many of the same processes as laminopathies and gives this new clinical trial implications beyond progeria. With the discovery of the lamin link, clinical researchers were suddenly looking for farnesyl transferase inhibitors (FTI) for progeria treatment. They zeroed in on Lonafarnib, an FTI drug developed by Merck that had been extensively tested and found safe for use in adults and children but ineffective against its brain cancer targets. In the two and a half year clinical trial, physicians at Boston Children's gave Lonafarnib to 26 children with progeria.



Source: Eurekalert
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
What's New on Medindia
Are Menopause Symptoms Troubling You?: Try these Options
Vaccination  And Counter  Measures Against  Monkeypox
Indian Railways Special Concession on Health Grounds
View all
News Archive
Date
Category
Advertisement
News Category

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
Parkinsons Disease Surgical Treatment Progeria 

Most Popular on Medindia

Drug - Food Interactions Calculate Ideal Weight for Infants Find a Doctor Blood Pressure Calculator Sanatogen Color Blindness Calculator Hearing Loss Calculator Selfie Addiction Calculator How to Reduce School Bag Weight - Simple Tips Find a Hospital

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2022

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use