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 December 22, 2014 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 December 22, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Monday, December 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Touch-Free Smart Phone Empowers Mobility-Impaired

Touch-Free Smart Phone Empowers Mobility-Impaired

Reuters - Innovations Video Online (Dec. 21, 2014) A touch-free phone developed in Israel enables the mobility-impaired to operate smart phones with just a movement of the head. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Earthworms Provide Cancer-Fighting Bacteria

Earthworms Provide Cancer-Fighting Bacteria

Reuters - Innovations Video Online (Dec. 21, 2014) Polish scientists isolate bacteria from earthworm intestines which they say may be used in antibiotics and cancer treatments. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Existing Chemical Compounds Could Revive Failing Antibiotics, Says Danish Scientist

Existing Chemical Compounds Could Revive Failing Antibiotics, Says Danish Scientist

Reuters - Innovations Video Online (Dec. 21, 2014) A team of scientists led by Danish chemist Jorn Christensen says they have isolated two chemical compounds within an existing antipsychotic medication that could be used to help a range of failing antibiotics work against killer bacterial infections, such as Tuberculosis. Jim Drury went to meet him. Video provided by Reuters
Powered by NewsLook.com
Hugging It Out Could Help You Ward Off A Cold

Hugging It Out Could Help You Ward Off A Cold

Newsy (Dec. 21, 2014) Carnegie Mellon researchers found frequent hugs can help people avoid stress-related illnesses. 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:

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