HOME >> BIOLOGY >> NEWS
Gene mutation causes progressive changes to cell structure in children with Progeria

[Boston, MA June 8, 2004] Researchers today announced that a mutation of the Lamin A gene gradually causes devastating effects on cellular structure and function in children with Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria). The study was published in this week's Proceedings of the National Academy of Sciences (PNAS). Progeria is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children.

"Although it is a rare disease, Progeria has long been considered to be a model for studying the mechanisms responsible for normal aging" said lead author Robert D. Goldman, Ph.D., Stephen Walter Ranson Professor and Chair, Cell and Molecular Biology, Northwestern University, Feinberg School of Medicine. "This study highlights the importance of the Lamin A gene in the maintenance of cell structure and function."

In April 2003, a team of researchers assembled by The Progeria Research Foundation (PRF), and including the National Human Genome Research Institute (NHGRI), one of the 27 institutes and centers that make up the National Institutes of Health (NIH), announced the discovery of the gene that causes Progeria. That study, published in the April 16th 2003 issue of Nature, found that the disease is not inherited, but instead is caused by chance mutations to the LMNA gene (Lamin A). The Lamin A protein is the structural scaffolding that holds the nucleus together, and is involved in gene expression and DNA replication.

In the PNAS study, the result of a collaborative effort launched by researchers from Northwestern, The Progeria Research Foundation and NHGRI, microscopic and molecular techniques were used to examine the nuclear structure of cells from children with Progeria. As the Progeria cells aged, there was a gradual increase in defects in their nuclear structure and function, reflecting an abnormal accumulation of the defective Lamin A protein. Very similar changes were seen in normal human cells
'"/>

Contact: Brooke Saltzer
bsaltzer@spectrumscience.com
202-955-6222
Progeria Research Foundation
8-Jun-2004


Page: 1 2

Related biology news :

1. Genetic mutations linked to the practice of burning coal in homes in China
2. Spontaneous mutation produces new MAO A/B knockout mouse
3. How an insidious mutation fools DNA replication
4. Using statistics to decipher secrets of natural mutation
5. Rare mutations can significantly increase risk factor for heart disease
6. Genetic mutation linked to more aggressive breast cancer found more often in African-Americans
7. LBP-1a gene mutation linked to disruption of normal fetal development
8. Genetic mutation found that is major contributor to type 1 diabetes
9. The mother lode of mutations
10. Single gene mutation muddying Parkinsons risk forecasts
11. Cardiofunk mutation: Probable source of congenital heart defects

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:11/13/2018)... , ... November 13, 2018 , ... ... Jonathan Retano will be a featured presenter at the upcoming CBI Gross-to-Net (GTN) ... a hospitality suite on Friday, November 16, where conference attendees will have the ...
(Date:11/13/2018)... Conn. (PRWEB) , ... November 13, 2018 , ... ... modern gum surgery alternatives with less invasive techniques, less discomfort and ... gum disease symptoms like receding, swollen and bleeding gums, and bad breath, this ...
(Date:11/13/2018)... SANTA ANA, Calif. (PRWEB) , ... November 12, 2018 , ... ... West Garden Grove, is welcoming individuals with multiple missing teeth in Santa Ana, CA ... received in just one day. Using decades of experience, Dr. Kim regularly helps patients ...
Breaking Biology News(10 mins):
(Date:11/7/2018)... ... November 07, 2018 , ... Diversified Technologies, Inc. (DTI) ... the Arizona Center for Algae Technology and Innovation at ASU. Funded by a USDA ... for those involved with algal and predator control applications. , Algae ponds get up ...
(Date:11/5/2018)... ... November 05, 2018 , ... GlycoMark, Inc., the exclusive ... through its website, http://www.glycomark.com , as part of National Diabetes Month. ... via the website in November from 9 a.m. – 5 p.m. ET weekdays ...
(Date:10/31/2018)... ... 2018 , ... Rooam , the premier payment platform for the nightlife ... its acquisition of the Tally payment app, the leading payment platform in Chicago that ... grow its market share and increase the number of restaurant and bar locations offered ...
(Date:10/31/2018)... ... October 30, 2018 , ... Today, the National Corn Growers Association (NCGA) ... global competition is to find new and innovative uses of field corn. NineSigma is ... 14.6 billion bushels of corn and are on pace to produce the second largest ...
Breaking Biology Technology:
Cached News: