Featured Research

from universities, journals, and other organizations

Mutation provides new insight into the molecular mechanisms of aging

Date:
May 6, 2011
Source:
Cell Press
Summary:
A new study identifies the mutation that underlies a rare, inherited accelerated-aging disease and provides key insight into normal human aging. The research highlights the importance of a cellular structure called the "nuclear envelope" in the process of aging.

A new study identifies the mutation that underlies a rare, inherited accelerated-aging disease and provides key insight into normal human aging. The research, published online May 5 in the American Journal of Human Genetics, highlights the importance of a cellular structure called the "nuclear envelope" in the process of aging.

Related Articles


"Aging is a very complex process which affects most biological functions of an organism but whose molecular basis remains largely unknown," explains Dr. Carlos López-Otín from the University of Oviedo in Spain. "Over the last few years, our knowledge of the molecular mechanisms underlying human aging has benefited from studies of premature-aging syndromes, such as Hutchinson-Gilford Progeria syndrome, that cause the early development of characteristics normally associated with advanced age."

Previous work has implicated defects in DNA repair systems in human progeria, and more recent studies have also implicated alterations in the nuclear envelope. The nuclear envelope is a structure that surrounds the nucleus of a cell. The nucleus houses the cell's genome, and the nuclear envelope interacts with DNA and regulates the exchange of materials, such as transcription factors that control gene expression, into and out of the nucleus. Mutations in genes for proteins called "lamins" that form major parts of the nuclear envelope have been linked with progeroid syndromes by this group and others. However, other patients do not exhibit mutations in known candidate genes, suggesting the existence of additional genes implicated in premature aging.

To gain new insight into the molecular mechanisms implicated in accelerated aging, Dr. López-Otín and colleagues sequenced the coding regions of all genes in two unrelated families with a novel progeroid syndrome. This study revealed a mutation in a gene called barrier-to-autointegration factor 1 (BANF1). Both patients had a dramatic reduction in the protein produced by this gene, and their cells exhibited substantial abnormalities in the nuclear envelope. These nuclear defects could be rescued by expression of normal BANF1.

"The finding of mutations in BANF1 associated with a progeroid syndrome may allow the development of therapeutic approaches for patients with this condition, as previously done for other progeroid syndromes," says Dr. López-Otín. "Furthermore, this study underscores the importance of the nuclear lamina for human aging and demonstrates the utility of the new methods of genome sequencing to identify the genetic cause of rare and devastating diseases which have traditionally received limited attention."


Story Source:

The above story is based on materials provided by Cell Press. Note: Materials may be edited for content and length.


Journal Reference:

  1. Xose S. Puente, Victor Quesada, Fernando G. Osorio, Rubén Cabanillas, Juan Cadiñanos, Julia M. Fraile, Gonzalo R. Ordóñez, Diana A. Puente, Ana Gutiérrez-Fernández, Miriam Fanjul-Fernández et al. Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome. American Journal of Human Genetics, May 5, 2011 DOI: 10.1016/j.ajhg.2011.04.010

Cite This Page:

Cell Press. "Mutation provides new insight into the molecular mechanisms of aging." ScienceDaily. ScienceDaily, 6 May 2011. <www.sciencedaily.com/releases/2011/05/110505123948.htm>.
Cell Press. (2011, May 6). Mutation provides new insight into the molecular mechanisms of aging. ScienceDaily. Retrieved January 31, 2015 from www.sciencedaily.com/releases/2011/05/110505123948.htm
Cell Press. "Mutation provides new insight into the molecular mechanisms of aging." ScienceDaily. www.sciencedaily.com/releases/2011/05/110505123948.htm (accessed January 31, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, January 31, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

CDC: Get Vaccinated for Measles

CDC: Get Vaccinated for Measles

Reuters - US Online Video (Jan. 30, 2015) — The CDC is urging people to get vaccinated for measles amid an outbreak that began at Disneyland and has now infected more than 90 people. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Obama To Outline New Plan For Personalized Medicine

Obama To Outline New Plan For Personalized Medicine

Newsy (Jan. 30, 2015) — President Obama is expected to speak with drugmakers Friday about his Precision Medicine Initiative first introduced last week. Video provided by Newsy
Powered by NewsLook.com
NFL Concussions Down; Still on Parents' Minds

NFL Concussions Down; Still on Parents' Minds

AP (Jan. 30, 2015) — The NFL announced this week that the number of game concussions dropped by a quarter over last season. Still, the dangers of the sport still weigh on players, and parents&apos; minds. (Jan. 30) Video provided by AP
Powered by NewsLook.com
U.S. Wants to Analyze DNA from 1 Million People

U.S. Wants to Analyze DNA from 1 Million People

Reuters - US Online Video (Jan. 30, 2015) — The U.S. has proposed analyzing genetic information from more than 1 million American volunteers to learn how genetic variants affect health and disease. Rough Cut (no reporter narration). Video provided by Reuters
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins