Featured Research

from universities, journals, and other organizations

Endocrinology: Understanding The Genetics Of Congenital Hyperinsulinism

Date:
July 6, 2008
Source:
Journal of Clinical Investigation
Summary:
A number of congenital disorders characterized by low blood sugar levels (hypoglycemia) as a result of excessive secretion of the hormone insulin are collectively known as congenital hyperinsulinism.

A number of congenital disorders characterized by low blood sugar levels (hypoglycemia) as a result of excessive secretion of the hormone insulin are collectively known as congenital hyperinsulinism.

Related Articles


These disorders are caused by genetic mutations that result in mutant KATP channel proteins in the insulin-secreting cells of the pancreas. To develop the most common and most severe form of congenital hyperinsulinism a baby must inherit a mutated gene from each of its parents (these mutations are said to be recessive as if only one mutated gene is inherited the baby does not suffer from the disease).

Recent reports have suggested that less severe forms of the disease can arise in children through the inheritance of a mutated gene from only one parent (these mutations are said to be dominant as the mutated gene causes disease despite the presence of a normal version of the gene).

To better understand the differences between the recessive and dominant mutations that cause congenital hyperinsulinism, Charles Stanley and colleagues, at the Children's Hospital of Philadelphia, characterized 33 patients with dominantly inherited KATP mutations.

Consistent with the recent reports on a small number of children, the authors found that patients with disease caused by dominant mutations exhibited a milder hypoglycemia than is normal for individuals with congenital hyperinsulinism caused by recessive mutations. Indeed, there were a large number of asymptomatic individuals and disease in most symptomatic individuals was well controlled with medication.

Mechanistic insight into the difference in the severity of disease caused by dominant and recessive mutations was provided by the observation that dominant mutations generated a form of KATP that can reach the cell surface but has impaired activity, whereas recessive mutations are known to generate a form of KATP that cannot reach the cell surface.

The authors stress that because children with dominant KATP mutations are likely to exhibit less severe symptoms, the disease may be missed and doctors should carefully evaluate children with family histories of the disease.


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. Sara E. Pinney et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. Journal of Clinical Investigation, July 1, 2008

Cite This Page:

Journal of Clinical Investigation. "Endocrinology: Understanding The Genetics Of Congenital Hyperinsulinism." ScienceDaily. ScienceDaily, 6 July 2008. <www.sciencedaily.com/releases/2008/07/080701175547.htm>.
Journal of Clinical Investigation. (2008, July 6). Endocrinology: Understanding The Genetics Of Congenital Hyperinsulinism. ScienceDaily. Retrieved February 28, 2015 from www.sciencedaily.com/releases/2008/07/080701175547.htm
Journal of Clinical Investigation. "Endocrinology: Understanding The Genetics Of Congenital Hyperinsulinism." ScienceDaily. www.sciencedaily.com/releases/2008/07/080701175547.htm (accessed February 28, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, February 28, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Could a $34 Smartphone Device Improve HIV Diagnosis in Africa?

Reuters - Innovations Video Online (Feb. 27, 2015) A dongle that plugs into a Smartphone mimics a lab-based blood test for HIV and syphilis and can detect the diseases in 15 minutes, say researchers. Tara Cleary reports. Video provided by Reuters
Powered by NewsLook.com
Doctor Says Head Transplants Possible Within Two Years

Doctor Says Head Transplants Possible Within Two Years

Buzz60 (Feb. 27, 2015) An Italian doctor is saying he could stick someone&apos;s head onto someone else&apos;s body. Patrick Jones (@Patrick_E_Jones) reports. Video provided by Buzz60
Powered by NewsLook.com
How Your Dentist Could Help Screen You For Diabetes

How Your Dentist Could Help Screen You For Diabetes

Newsy (Feb. 27, 2015) A new study from researchers at New York University suggests dentists could soon use blood samples taken from patients&apos; mouths to test for diabetes. Video provided by Newsy
Powered by NewsLook.com
The Best Tips to Makeover Your Health

The Best Tips to Makeover Your Health

Buzz60 (Feb. 27, 2015) If you&apos;re looking to boost your health this season, there are a few quick and easy steps to prompt you for success. Krystin Goodwin (@Krystingoodwin) has the best tips to give your health a makeover this spring! Video provided by Buzz60
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:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

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