Featured Research

from universities, journals, and other organizations

Joining the dots: Mutation-mechanism-disease

Date:
September 1, 2011
Source:
Journal of Clinical Investigation
Summary:
Individuals with an autoinflammatory syndrome experience episodes of prolonged fever and inflammation in the absence of infection. There are several different autoinflammatory syndromes identified by distinct symptoms and underlying genetic mutations. Researchers have now identified a mutation that causes Japanese autoinflammatory syndrome with lipodystrophy and determined the mechanisms by which it does so.

Individuals with an autoinflammatory syndrome experience episodes of prolonged fever and inflammation in the absence of infection.

There are several different autoinflammatory syndromes identified by distinct symptoms and underlying genetic mutations.

A team of researchers, led by Koji Yasutomo, at the University of Tokushima Graduate School, Japan, has now determined that a mutation of the PSMB8 gene causes Japanese autoinflammatory syndrome with lipodystrophy (JASL), a recently identified condition.

The team performed a detailed analysis of how the PSMB8 mutation causes disease, providing new insight into potential therapeutic targets for this rare condition.

The research appears in the Journal of Clinical Investigation.


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. Akiko Kitamura, Yoichi Maekawa, Hisanori Uehara, Keisuke Izumi, Izumi Kawachi, Masatoyo Nishizawa, Yasuko Toyoshima, Hitoshi Takahashi, Daron M. Standley, Keiji Tanaka, Jun Hamazaki, Shigeo Murata, Koji Obara, Itaru Toyoshima, Koji Yasutomo. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. Journal of Clinical Investigation, 2011; DOI: 10.1172/JCI58414

Cite This Page:

Journal of Clinical Investigation. "Joining the dots: Mutation-mechanism-disease." ScienceDaily. ScienceDaily, 1 September 2011. <www.sciencedaily.com/releases/2011/09/110901134630.htm>.
Journal of Clinical Investigation. (2011, September 1). Joining the dots: Mutation-mechanism-disease. ScienceDaily. Retrieved September 22, 2014 from www.sciencedaily.com/releases/2011/09/110901134630.htm
Journal of Clinical Investigation. "Joining the dots: Mutation-mechanism-disease." ScienceDaily. www.sciencedaily.com/releases/2011/09/110901134630.htm (accessed September 22, 2014).

Share This



More Health & Medicine News

Monday, September 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sierra Leone in Lockdown to Control Ebola

Sierra Leone in Lockdown to Control Ebola

AP (Sep. 21, 2014) Sierra Leone residents remained in lockdown on Saturday as part of a massive effort to confine millions of people to their homes in a bid to stem the biggest Ebola outbreak in history. (Sept. 20) Video provided by AP
Powered by NewsLook.com
Sierra Leone's Nationwide Ebola Curfew Underway

Sierra Leone's Nationwide Ebola Curfew Underway

Newsy (Sep. 20, 2014) Sierra Leone is locked down as aid workers and volunteers look for new cases of Ebola. Video provided by Newsy
Powered by NewsLook.com
Changes Found In Brain After One Dose Of Antidepressants

Changes Found In Brain After One Dose Of Antidepressants

Newsy (Sep. 19, 2014) A study suggest antidepressants can kick in much sooner than previously thought. Video provided by Newsy
Powered by NewsLook.com
Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. 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:
from the past week

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