Featured Research

from universities, journals, and other organizations

Rare genetic disorder provides clues to development of the pancreas

Date:
December 14, 2011
Source:
Wellcome Trust
Summary:
A rare genetic disorder has given researchers a surprising insight into how the pancreas develops. The finding provides a clue to how it may be possible to 'program' stem cells – master cells in the body that can develop into specialized cells – to become pancreatic cells.

A rare genetic disorder has given researchers at the University of Exeter a surprising insight into how the pancreas develops. The finding provides a clue to how it may be possible to 'programme' stem cells -- master cells in the body that can develop into specialised cells -- to become pancreatic cells.

Pancreatic agenesis is a rare condition in which the body is unable to produce a pancreas. The pancreas plays an essential part in regulating levels of sugar (glucose) in the blood. It does this by the release of the hormone insulin, which is generated and released by cells known as pancreatic beta cells. It also produces enzymes to help digest and absorb food.

Rare mutations in the genes PDX1 and PTF1A have previously been shown to cause pancreatic agenesis but have only been identified in a handful of families affected by the condition. Until now, the underlying causes of most cases have been unknown.

In a paper recently published in Nature Genetics, an international team of researchers led by scientists from the Peninsula College of Medicine and Dentistry at the University of Exeter report a mutation in the gene GATA6 found in 15 out of 27 individuals with pancreatic agenesis. The study, funded by organisations including the Wellcome Trust, Diabetes UK and the National Institute for Health Research, establishes a key role for GATA6 in the development of pancreatic cells.

The finding was particularly surprising because switching off the GATA6 gene in mouse models seemed to make no difference to the development of the pancreas.

Professor Andrew Hattersley from the Peninsula College of Medicine and Dentistry said: "This rare genetic condition has provided us with a surprising insight into how the pancreas develops. What is it that programmes cells to become pancreatic beta cells? Our study suggests that GATA6 plays a very important role in this process and we hope this will help the crucial work to try and make beta cells for patients with type 1 diabetes."

Whereas pancreatic agenesis is an extreme form of pancreatic dysfunction, diabetes is far more common. In type 1 diabetes (which generally develops in childhood), the immune system attacks and destroys pancreatic beta cells and the body is unable to regulate glucose levels; in type 2 diabetes, the beta cells gradually decline until -- usually during adulthood -- they cease to function.

Professor Sian Ellard, also from Peninsula College of Medicine and Dentistry, added: "This discovery was possible because new sequencing approaches meant we could test all the genetic information in one go and because with the help of doctors throughout the world we were able to study 27 patients with a very rare condition."


Story Source:

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


Journal Reference:

  1. Hana Lango Allen, Sarah E Flanagan, Charles Shaw-Smith, Elisa De Franco, Ildem Akerman, Richard Caswell, Jorge Ferrer, Andrew T Hattersley, Sian Ellard. GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nature Genetics, 2011; DOI: 10.1038/ng.1035

Cite This Page:

Wellcome Trust. "Rare genetic disorder provides clues to development of the pancreas." ScienceDaily. ScienceDaily, 14 December 2011. <www.sciencedaily.com/releases/2011/12/111211133958.htm>.
Wellcome Trust. (2011, December 14). Rare genetic disorder provides clues to development of the pancreas. ScienceDaily. Retrieved April 17, 2014 from www.sciencedaily.com/releases/2011/12/111211133958.htm
Wellcome Trust. "Rare genetic disorder provides clues to development of the pancreas." ScienceDaily. www.sciencedaily.com/releases/2011/12/111211133958.htm (accessed April 17, 2014).

Share This



More Health & Medicine News

Thursday, April 17, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Is Apathy A Sign Of A Shrinking Brain?

Is Apathy A Sign Of A Shrinking Brain?

Newsy (Apr. 17, 2014) A recent study links apathetic feelings to a smaller brain. Researchers say the results indicate a need for apathy screening for at-risk seniors. Video provided by Newsy
Powered by NewsLook.com
Could Even Casual Marijuana Use Alter Your Brain?

Could Even Casual Marijuana Use Alter Your Brain?

Newsy (Apr. 16, 2014) A new study conducted by researchers at Northwestern and Harvard suggests even casual marijuana use can alter your brain. Video provided by Newsy
Powered by NewsLook.com
Thousands Of Vials Of SARS Virus Go Missing

Thousands Of Vials Of SARS Virus Go Missing

Newsy (Apr. 16, 2014) A research institute in Paris somehow misplaced more than 2,000 vials of the deadly SARS virus. Video provided by Newsy
Powered by NewsLook.com
Formerly Conjoined Twins Released From Dallas Hospital

Formerly Conjoined Twins Released From Dallas Hospital

Newsy (Apr. 16, 2014) Conjoined twins Emmett and Owen Ezell were separated by doctors in August. Now, nearly nine months later, they're being released from the hospital. 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