Featured Research

from universities, journals, and other organizations

New mouse model may provide insights into rare genetic syndrome

Date:
September 23, 2012
Source:
American Thyroid Association
Summary:
ew mouse models can help scientists study a rare disease, called SECISBP2 syndrome, that causes abnormal thyroid hormone metabolism, delayed bone maturation, as well as other abnormal characteristics that vary by individual, according to new data.

New mouse models can help scientists study a rare disease, called SECISBP2 syndrome, that causes abnormal thyroid hormone metabolism, delayed bone maturation, as well as other abnormal characteristics that vary by individual, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.

"SECISBP2 syndrome has confounded the scientific community. New approaches to study the biological underpinnings of SECISBP2 syndrome are thus critical to truly make progress against this disorder," said Douglas Forrest, PhD, of the National Institute of Diabetes and Digestive and Kidney Diseases, and Program Co-Chair of the ATA Annual Meeting.

SECISBP2 syndrome is caused by an atypical resistance to thyroid hormone In patients with this disease, aberrant thyroid hormone levels (high T4, low T3, elevated rT3, and high-to-normal TSH) indicate a defect in deiodinase-dependent thyroid hormone metabolism. Findings of reduced concentrations of plasma selenoproteins suggested a generalized defect of selenoprotein biosynthesis and led to the identification of mutations in the SECISBP2 gene. SECISBP2 is thought to play an essential role for selenoprotein biosynthesis. Mutations in the SECISBP2 gene lead to reduced expression of selenoproteins and cause a syndrome with relatively mild to more severe phenotypes.

A team of researchers led by Sandra Seeher at the Institut für Experimentelle Endokrinologie, Charité -- Universitätsmedizin Berlin in Berlin, Germany, set out to create mouse models to test whether Secisbp2 is essential for selenoprotein biosynthesis and to study the consequences of Secisbp2 deletion in tissues and the whole organism.

Researchers found that the necessity of Secisbp2, using a constitutional knockout, leads to early embryonic lethality. Nevertheless, Secisbp2 heterozygotes have no obvious phenotype; they are fertile, and their thyroid function tests are normal. Biochemical analysis revealed only minimal changes in selenoprotein expression. Hepatocyte-specific Secisbp2 knockout mice also appear normal, but show a dramatic reduction of hepatic selenoprotein expression. Neuron-specific Secisbp2 knockout mice have a more severe phenotype and survive for approximately three weeks. They are smaller and weigh less than their wild-type littermates, and exhibit a marked movement phenotype with an awkward, broad based, and dystonic gait. Immunohistochemical stainings demonstrated a specific loss of parvalbumin-positive interneurons in somatosensory cortex and hippocampus. Researchers then compared Secisbp2 mice with similar mouse models lacking tRNA[Ser]Sec. They found that the phenotypes, as well as the consequences on selenoprotein level of our Secisbp2 mice are milder than in tRNA[Ser]Sec knockout mice. Research therefore intend to alternative factors that could compensate for Secisbp2 function.


Story Source:

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


Cite This Page:

American Thyroid Association. "New mouse model may provide insights into rare genetic syndrome." ScienceDaily. ScienceDaily, 23 September 2012. <www.sciencedaily.com/releases/2012/09/120923141220.htm>.
American Thyroid Association. (2012, September 23). New mouse model may provide insights into rare genetic syndrome. ScienceDaily. Retrieved July 29, 2014 from www.sciencedaily.com/releases/2012/09/120923141220.htm
American Thyroid Association. "New mouse model may provide insights into rare genetic syndrome." ScienceDaily. www.sciencedaily.com/releases/2012/09/120923141220.htm (accessed July 29, 2014).

Share This




More Health & Medicine News

Tuesday, July 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Deadly Ebola Virus Threatens West Africa

Deadly Ebola Virus Threatens West Africa

AP (July 28, 2014) — West African nations and international health organizations are working to contain the largest Ebola outbreak in history. It's one of the deadliest diseases known to man, but the CDC says it's unlikely to spread in the U.S. (July 28) Video provided by AP
Powered by NewsLook.com
$15B Deal on Vets' Health Care Reached

$15B Deal on Vets' Health Care Reached

AP (July 28, 2014) — A bipartisan deal to improve veterans health care would authorize at least $15 billion in emergency spending to fix a veterans program scandalized by long patient wait times and falsified records. (July 28) Video provided by AP
Powered by NewsLook.com
Two Americans Contract Ebola in Liberia

Two Americans Contract Ebola in Liberia

Reuters - US Online Video (July 28, 2014) — Two American aid workers in Liberia test positive for Ebola while working to combat the deadliest outbreak of the virus ever. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Traditional African Dishes Teach Healthy Eating

Traditional African Dishes Teach Healthy Eating

AP (July 28, 2014) — Classes are being offered nationwide to encourage African Americans to learn about cooking fresh foods based on traditional African cuisine. The program is trying to combat obesity, heart disease and other ailments often linked to diet. (July 28) 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:
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