Featured Research

from universities, journals, and other organizations

Loss Of Stability Of The AHI1-HAP1 Complex An Issue In Joubert Syndrome

Date:
July 17, 2008
Source:
Journal of Clinical Investigation
Summary:
Joubert syndrome is an inherited brain disorder characterized by loss of muscle tone, developmental delay, and mental retardation. New research has provided insight into how mutations in one of the many genes linked to Joubert syndrome, AHI1, might cause disease. It is hoped that this might provide new targets for the development of novel therapeutic approaches.

Joubert syndrome is an inherited disorder that affects the area of the brain that controls balance and coordination; it is characterized by symptoms such as loss of muscle tone, developmental delay, and mental retardation. Mutations in several genes have been associated with Joubert syndrome.

Related Articles


The mutations in one of these, AHI1, are known to generate truncated forms of the AHI1 protein but how this contributes to the development of disease has not been determined. However, Xiao-Jiang Li and colleagues have now provided insight into this issue by showing that mouse Ahi1 interacts with the protein Hap1, which is critical for neonatal development.

In the study, it was found that Ahi1 binds tightly to Hap1 and that they form a stable complex in the mouse brain. Further analysis indicated that the two proteins stabilize each other and that truncated mouse Ahi1 that resembled the truncated AHI1 protein observed in individuals with Joubert syndrome was unable to stabilize mouse Hap1.

The ability of Hap1 and Ahi1 to stabilize each other was important for maintaining levels of the protein TrkB, which is critical for the generation of nerves and brain development. These data have provided insight into the mechanisms underlying disease in individuals with Joubert syndrome associated with AHI1 mutations and might provide new targets for the development of novel therapeutic approaches.


Story Source:

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


Journal Reference:

  1. Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice. Journal of Clinical Investigation, July 18, 2008

Cite This Page:

Journal of Clinical Investigation. "Loss Of Stability Of The AHI1-HAP1 Complex An Issue In Joubert Syndrome." ScienceDaily. ScienceDaily, 17 July 2008. <www.sciencedaily.com/releases/2008/07/080717180104.htm>.
Journal of Clinical Investigation. (2008, July 17). Loss Of Stability Of The AHI1-HAP1 Complex An Issue In Joubert Syndrome. ScienceDaily. Retrieved November 23, 2014 from www.sciencedaily.com/releases/2008/07/080717180104.htm
Journal of Clinical Investigation. "Loss Of Stability Of The AHI1-HAP1 Complex An Issue In Joubert Syndrome." ScienceDaily. www.sciencedaily.com/releases/2008/07/080717180104.htm (accessed November 23, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, November 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola-Hit Sierra Leone's Late Cocoa Leaves Bitter Taste

Ebola-Hit Sierra Leone's Late Cocoa Leaves Bitter Taste

AFP (Nov. 23, 2014) The arable district of Kenema in Sierra Leone -- at the centre of the Ebola outbreak in May -- has been under quarantine for three months as the cocoa harvest comes in. Duration: 01:32 Video provided by AFP
Powered by NewsLook.com
WFP: Ebola Risks Heightened Among Women Throughout Africa

WFP: Ebola Risks Heightened Among Women Throughout Africa

AFP (Nov. 21, 2014) Having children has always been a frightening prospect in Sierra Leone, the world's most dangerous place to give birth, but Ebola has presented an alarming new threat for expectant mothers. Duration: 00:37 Video provided by AFP
Powered by NewsLook.com
Could Your Genes Be The Reason You're Single?

Could Your Genes Be The Reason You're Single?

Newsy (Nov. 21, 2014) Researchers in Beijing discovered a gene called 5-HTA1, and carriers are reportedly 20 percent more likely to be single. Video provided by Newsy
Powered by NewsLook.com
Raw: Paralyzed Marine Walks With Robotic Braces

Raw: Paralyzed Marine Walks With Robotic Braces

AP (Nov. 21, 2014) Marine Corps officials say a special operations officer left paralyzed by a sniper's bullet in Afghanistan walked using robotic leg braces in a ceremony to award him a Bronze Star. (Nov. 21) Video provided by AP
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