Featured Research

from universities, journals, and other organizations

Not All Leaks Are Bad: Plugging A Calcium Leak Linked To Familial Alzheimer Disease

Date:
April 13, 2007
Source:
Journal of Clinical Investigation
Summary:
Familial Alzheimer disease (FAD) is an inherited early-onset form of Alzheimer disease. Mutations in the genes that make the proteins presenilin-1 and presenilin-2 have been identified in a substantial proportion of individuals with FAD, but the molecular effects of these mutations have not been clearly defined.

Familial Alzheimer disease (FAD) is an inherited early-onset form of Alzheimer disease. Mutations in the genes that make the proteins presenilin-1 and presenilin-2 have been identified in a substantial proportion of individuals with FAD, but the molecular effects of these mutations have not been clearly defined.

Related Articles


In a study that appears online on April 12 in advance of publication in the May print issue of the Journal of Clinical Investigation, Ilya Bezprozvanny and colleagues from the University of Texas Southwestern, Dallas, used in vitro assays to show that, unlike normal presenilin-1, five of the six FAD-associated mutant forms of presenilin-1 analyzed do not allow calcium to passively leak into the main body of a cell from a compartment known as the ER.

For one mutant, the initial observations were corroborated by the observation that fibroblasts from an individual with FAD who expressed this mutant form of presenilin-1 did not passively leak calcium from the ER. As mutant forms of presenilin-1 associated with a distinct neurological disorder, frontal temporal dementia, did not affect calcium leakage from the ER, the authors conclude that the molecular effects of mutant forms of presenilin-1 are disease specific.

However, further studies are required to determine whether altered calcium leakage actually causes FAD or is just associated with it.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Cite This Page:

Journal of Clinical Investigation. "Not All Leaks Are Bad: Plugging A Calcium Leak Linked To Familial Alzheimer Disease." ScienceDaily. ScienceDaily, 13 April 2007. <www.sciencedaily.com/releases/2007/04/070412171435.htm>.
Journal of Clinical Investigation. (2007, April 13). Not All Leaks Are Bad: Plugging A Calcium Leak Linked To Familial Alzheimer Disease. ScienceDaily. Retrieved October 24, 2014 from www.sciencedaily.com/releases/2007/04/070412171435.htm
Journal of Clinical Investigation. "Not All Leaks Are Bad: Plugging A Calcium Leak Linked To Familial Alzheimer Disease." ScienceDaily. www.sciencedaily.com/releases/2007/04/070412171435.htm (accessed October 24, 2014).

Share This



More Mind & Brain News

Friday, October 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Academic Scandal Shocks UNC

Academic Scandal Shocks UNC

AP (Oct. 23, 2014) A scandal involving bogus classes and inflated grades at the University of North Carolina was bigger than previously reported, a new investigation found. (Oct. 23) Video provided by AP
Powered by NewsLook.com
Working Mother Getaway: Beaches Turks & Caicos

Working Mother Getaway: Beaches Turks & Caicos

Working Mother (Oct. 22, 2014) Feast your eyes on this gorgeous family-friendly resort. Video provided by Working Mother
Powered by NewsLook.com
What Your Favorite Color Says About You

What Your Favorite Color Says About You

Buzz60 (Oct. 22, 2014) We all have one color we love to wear, and believe it or not, your color preference may reveal some of your character traits. In celebration of National Color Day, Krystin Goodwin (@kyrstingoodwin) highlights what your favorite colors may say about you. Video provided by Buzz60
Powered by NewsLook.com
First-Of-Its-Kind Treatment Gives Man Ability To Walk Again

First-Of-Its-Kind Treatment Gives Man Ability To Walk Again

Newsy (Oct. 21, 2014) A medical team has for the first time given a man the ability to walk again after transplanting cells from his brain onto his severed spinal cord. Video provided by Newsy
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