Navigation Links
Cause of genetic disorder found in 'dark matter' of DNA
Date:11/10/2013

For the first time, scientists have used new technology which analyses the whole genome to find the cause of a genetic disease in what was previously referred to as "junk DNA". Pancreatic agenesis results in babies being born without a pancreas, leaving them with a lifetime of diabetes and problems digesting food. In a breakthrough for genetic research, teams led by the University of Exeter Medical School and Imperial College London found that the condition is most commonly caused by mutations in a newly identified gene regulatory element in a remote part of the genome, which can now be explored thanks to advances in genetic sequencing.

In a study published today (November 10 2013) in Nature Genetics, the team discovered that the condition is caused by mutations in genomic "dark matter", the vast stretches of DNA that do not contain genes that accounts for 99 per cent of the human genome. Instead, it is responsible for making sure that genes are "switched on" at the right time and in the right part of the body. The effects of this region on human development is only beginning to be understood, thanks to technologies which allow scientists to analyse the whole genome all 3 billion letters in our DNA codes.

The research was funded through the Wellcome Trust, the European Community's Seventh Framework Programme and the National Institute for Health Research (NIHR) Exeter Clinical Research Facility.

Dr Mike Weedon, lead researcher and Senior Lecturer at the University of Exeter Medical School, said: "This breakthrough delves into the 'dark matter' of the genome, which until recently, was very difficult to systematically study. Now, advances in DNA sequencing technology mean we have the tools to explore these non-protein coding regions far more thoroughly, and we are finding it has a significant impact on development and disease."

The pancreas plays an essential role 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.

Pancreatic agenesis means babies have diabetes from birth and problems with digesting food which prevents weight gain. The disease is rare, but its study also helps scientists gain a better understanding of how the pancreas works, which helps shed light on research into diabetes.

Professor Andrew Hattersley, a Wellcome Trust Senior Investigator who led the Exeter team said: "This finding gives a deeper understanding to families affected by this disorder, and it also tells us more about how the pancreas develops. In the longer term, this insight could have implications for regenerative stem cell treatments for Type 1 Diabetes."

The team found six different mutations in a newly discovered PTF1A regulatory region in eleven people affected by pancreatic agenesis from across the world.


'/>"/>

Contact: Louise Vennells
l.vennells@exeter.ac.uk
0044-013-927-24927
University of Exeter
Source:Eurekalert

Related biology news :

1. Will a genetic mutation cause trouble? Ask Spliceman
2. Record-breaking grant: New research project to investigate the causes of mental disorders
3. BPA could affect reproductive capabilities, cause infection of the uterus
4. Researcher who identifed genetic cause and possible treatment for Marfan syndrome honored
5. A new gene thought to be the cause in early-onset forms of Alzheimers disease
6. Long-term research reveals causes and consequences of environmental change
7. Changes in brains blood flow could cause brain freeze
8. Yeast cell reaction to Zoloft suggests alternative cause, drug target for depression
9. Glycogen accumulation in neurons causes brain damage and shortens the lives of flies and mice
10. Double the pain: RUB biologists find the cause of pain in the treatment of fair skin cancer
11. Gene mutations cause massive brain asymmetry
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/9/2016)... -- Elevay is currently known as the ... high net worth professionals seeking travel for work   ... there is still no substitute for a face-to-face meeting. ... deal with a firm handshake. This is why wealthy ... citizenship via investment programs like those offered by the ...
(Date:4/26/2016)... , April 27, 2016 ... "Global Multi-modal Biometrics Market 2016-2020"  report to their ... , The analysts forecast the global ... of 15.49% during the period 2016-2020.  ... of sectors such as the healthcare, BFSI, transportation, ...
(Date:4/13/2016)... -- IMPOWER physicians supporting Medicaid patients in Central ... in telehealth thanks to a new partnership with higi. ... patients can routinely track key health measurements, such as ... when they opt in, share them with IMPOWER clinicians ... retail location at no cost. By leveraging this data, ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... ... June 23, 2016 , ... Supplyframe, the Industry Network for ... Design Lab . Located in Pasadena, Calif., the Design Lab’s mission is to ... are designed, built and brought to market. , The Design Lab is Supplyframe’s ...
(Date:6/23/2016)... NC (PRWEB) , ... June 23, 2016 , ... In ... University Hospital in Denmark detail how a patient who developed lymphedema after being treated ... tissue. The results could change the paradigm for dealing with this debilitating, frequent side ...
(Date:6/23/2016)... 23, 2016  Blueprint Bio, a company dedicated to ... medical community, has closed its Series A funding round, ... "We have received a commitment from Forentis ... need to meet our current goals," stated Matthew ... runway to complete validation on the current projects in ...
(Date:6/23/2016)... -- On Wednesday, June 22, 2016, the NASDAQ ... Dow Jones Industrial Average edged 0.27% lower to finish at ... Stock-Callers.com has initiated coverage on the following equities: Infinity Pharmaceuticals ... NKTR ), Aralez Pharmaceuticals Inc. (NASDAQ: ARLZ ... Learn more about these stocks by accessing their free trade ...
Breaking Biology Technology: