Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism

A research team at the University of Exeter has used new technology to discover novel mutations which cause hyperinsulinism

2012-12-27

(Press-News.org) Congenital hyperinsulinism is a genetic condition where a baby's pancreas secretes too much insulin. It affects approximately one in 50,000 live births and in severe cases requires the surgical removal of all or part of the pancreas.

Researchers at the University of Exeter Medical School are the first in the world to utilise new genetic sequencing technology to sequence the entirety of a gene in order to identify mutations that cause hyperinsulinism. Previously, existing technology limited such sequencing to only part of the coding regions of the gene which meant that some mutations were missed.

Using new Illumina genetic sequencing technology, the research team led by Professor Sian Ellard has discovered novel mutations that cause hyperinsulinism. Their findings are published today, 27th December 2012, on-line by The American Journal of Human Genetics.

The outcome will be that some infants born with hyperinsulinism will require fewer investigations, because the new technology means that for many only one genetic test will be required to determine the extent of the condition in each child. It also means that clinicians will have more information at their fingertips to inform them about how much of the pancreas needs to be removed.

Approximately 50 per cent of patients with congenital hyperinsulinism require surgery, and of those half require the entire pancreas to be removed. Removal of the entire pancreas increases the risk of diabetes later in life, but if left undiagnosed and untreated hyperinsulinism can result in irreparable brain damage. Symptoms range from shakiness and tiredness to seizure and coma.

Dr. Sarah Flanagan, Research Fellow in Molecular Genetics at the University of Exeter Medical School said: "The potential provided by this new technology is important and exciting, because it allows us to investigate genetic coding in its entirety. This means that investigators can identify mutations that sit at the heart of any number of conditions where before they might have been missed. This in turn results in better information for clinicians upon which they can base effective treatments and interventions for their patients."

### END

ELSE PRESS RELEASES FROM THIS DATE:

Cellular fuel gauge may hold the key to restricting cancer growth

2012-12-27

Researchers at McGill University have discovered that a key regulator of energy metabolism in cancer cells known as the AMP-activated protein kinase (AMPK) may play a crucial role in restricting cancer cell growth. AMPK acts as a "fuel gauge" in cells; AMPK is turned on when it senses changes in energy levels, and helps to change metabolism when energy levels are low, such as during exercise or when fasting. The researchers found that AMPK also regulates cancer cell metabolism and can restrict cancer cell growth. The discovery was made by Russell (Rusty) Jones, an assistant ...

Stowers study hints that stem cells prepare for maturity much earlier than anticipated

2012-12-27

KANSAS CITY, MO—Unlike less versatile muscle or nerve cells, embryonic stem cells are by definition equipped to assume any cellular role. Scientists call this flexibility "pluripotency," meaning that as an organism develops, stem cells must be ready at a moment's notice to activate highly diverse gene expression programs used to turn them into blood, brain, or kidney cells. Scientists from the lab of Stowers Investigator Ali Shilatifard, Ph.D., report in the December 27, 2012 online issue of Cell that one way cells stay so plastic is by stationing a protein called Ell3 ...

Evidence contradicts idea that starvation caused saber-tooth cat extinction

2012-12-27

In the period just before they went extinct, the American lions and saber-toothed cats that roamed North America in the late Pleistocene were living well off the fat of the land. That is the conclusion of the latest study of the microscopic wear patterns on the teeth of these great cats recovered from the La Brea tar pits in southern California. Contrary to previous studies, the analysis did not find any indications that the giant carnivores were having increased trouble finding prey in the period before they went extinct 12,000 years ago. The results, published on ...

MRI can screen patients for Alzheimer's disease or frontotemporal lobar degeneration

2012-12-27

PHILADELPHIA - When trying to determine the root cause of a person's dementia, using an MRI can effectively and non-invasively screen patients for Alzheimer's disease or Frontotemporal Lobar Degeneration (FTLD), according to a new study by researchers from the Perelman School of Medicine at the University of Pennsylvania. Using an MRI-based algorithm effectively differentiated cases 75 percent of the time, according to the study, published in the December 26th, 2012, issue of Neurology®, the medical journal of the American Academy of Neurology. The non-invasive approach ...

Drug shortage linked to greater risk of relapse in young Hodgkin lymphoma patients

2012-12-27

A national drug shortage has been linked to a higher rate of relapse among children, teenagers and young adults with Hodgkin lymphoma enrolled in a national clinical trial, according to research led by St. Jude Children's Research Hospital. Estimated two-year cancer-free survival for patients enrolled in the study fell from 88 to 75 percent after the drug cyclophosphamide was substituted for mechlorethamine for treatment of patients with intermediate- or high-risk Hodgkin lymphoma. The study was launched before the drug shortages began. The change occurred after a mechlorethamine ...

Drug shortage linked to greater risk of relapse in young Hodgkin lymphoma patients

2012-12-27

STANFORD, Calif. — A national drug shortage has been linked to a higher rate of relapse among children, teenagers and young adults with Hodgkin lymphoma enrolled in a national clinical trial, according to research led by St. Jude Children's Research Hospital. Estimated two-year cancer-free survival for patients enrolled in the study fell from 88 to 75 percent after the drug cyclophosphamide was substituted for mechlorethamine for treatment of patients with intermediate- or high-risk Hodgkin lymphoma. The study was launched before the drug shortages began. The change occurred ...

Kindness key to happiness and acceptance for children

2012-12-27

Children who make an effort to perform acts of kindness are happier and experience greater acceptance from their peers, suggests new research from the University of British Columbia and the University of California, Riverside. Kimberly Schonert-Reichl, a professor in UBC's Faculty of Education, and co-author Kristin Layous, of the University of California, Riverside, say that increasing peer acceptance is key to preventing bullying. In the study, published today by PLOS ONE, researchers examined how to boost happiness in students aged 9 to 11 years. Four hundred students ...

For pre-teens, kindness may be key to popularity

2012-12-27

Nine to twelve-year-olds who perform kind acts are not only happier, but also find greater acceptance in their peer groups, according to research published December 26, 2012 in the open access journal PLOS ONE by Kristin Layous and colleagues from the University of California, Riverside. The authors randomly assigned over 400 students aged 9-12 to two groups: one group performed 'acts of kindness' and the other kept track of pleasant places they visited each week. Examples of kind acts included descriptions like "gave someone some of my lunch" or "gave my mom a hug when ...

Saber-toothed cats in California were not driven to extinction by lack of food

2012-12-27

When prey is scarce, large carnivores may gnaw prey to the bone, wearing their teeth down in the process. A new analysis of the teeth of saber-toothed cats and American lions reveals that they did not resort to this behavior just before extinction, suggesting that lack of prey was probably not the main reason these large cats became extinct. The results, published December 26 in the open access journal PLOS ONE by Larisa DeSantis of Vanderbilt University and colleagues, compares tooth wear patterns from the fossil cats that roamed California 12,000 to 30,000 years ago. ...

Virtual women reveal more skin, regardless of body proportions

2012-12-27

In the virtual world of Second Life, female avatars expose substantially more skin than males, independent of their virtual body proportions, according to research published December 26 in the open access journal PLOS ONE by Matthieu Guitton and colleagues from Laval University, Canada. The human tendency to cover up stems from climatic, environmental, physical and cultural constraints, so measuring people's propensity to reveal skin can be difficult in the real world. To study human behavior free of at least some of these constraints, the researchers analyzed how male ...

Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism

ELSE PRESS RELEASES FROM THIS DATE:

LAST 30 PRESS RELEASES: