HOME >> BIOLOGY >> NEWS
Genetic deficiency may explain sudden infant death syndrome

WINSTON-SALEM, N.C. - A missing enzyme may be one possible explanation for sudden infant death syndrome, according to a report by a Wake Forest University School of Medicine gastroenterologist in the June issue of The Journal of Clinical Investigation.

The missing enzyme is called mitochondrial trifunctional protein and it is a key step in providing energy for skeletal muscle and the heart and for metabolism in the liver, according to Jamal A. Ibdah, M.D., Ph.D, assistant professor of internal medicine (gastroenterology) at Wake Forest. The energy ordinarily comes from metabolism of fatty acids.

Ibdah set out to demonstrate effects in mice by "knocking out" the gene that produces mitochondrial trifunctional protein. The mice pups developed low blood sugar (neonatal hypoglycemia) and died suddenly 6 to 36 hours after birth.

This knockout, developed at Wake Forest University, "is the first knockout that models a genetic disease of the protein that breaks down fatty acids," said Ibdah.

In a knockout mouse, a specific gene is removed from the rodent, modeling the disease process in people who are born without that particular gene.

"Our results demonstrate that the mitochondrial-trifunctional-protein-deficient knockout mouse is a valid model for human mitochondrial trifunctional protein deficiency and that it has important implications for human disease," Ibdah said. "Many of the associations that were questioned in humans are confirmed clearly in this knockout."

He said the study demonstrates that the enzyme is essential for fetal development and survival of the newborn. "Deficiency of mitochondrial trifunctional protein causes fetal growth retardation, neonatal hypoglycemia and sudden death," Ibdah said. "All are serious and common human disorders."

He said the mouse model provides mechanisms and understanding for the human disease. "It confirms that there is an association between impairment in breaking down fa
'"/>

Contact: Robert Conn
rconn@wfubmc.edu
336-716-4587
Wake Forest University Baptist Medical Center
30-May-2001


Page: 1 2

Related biology news :

1. Genetic mutations linked to the practice of burning coal in homes in China
2. Genetic differences might help distinguish thyroid cancers
3. Genetic modification of linseed produces healthier omega 3 and 6 fatty acids
4. Wiley publishes Welcome to the Genome: A Users Guide to the Genetic Past, Present, and Future
5. Genetically modified bacterium as remedy for intestinal diseases
6. Genetic analysis rewrites salamanders evolutionary history
7. Genetic map of important tree genes outlined
8. Genetically-engineered marathon mouse keeps on running
9. Genetic clues found for common congenital brain disorder
10. Genetic mutation linked to more aggressive breast cancer found more often in African-Americans
11. Genetic discovery could dramatically reduce need for liver transplants in children

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/22/2016)... , June 22, 2016  The American College of Medical ... Show Executive Magazine as one of the fastest-growing trade ... 25-27 at the Bellagio in Las Vegas ... highest percentage of growth in each of the following categories: ... companies and number of attendees. The 2015 ACMG Annual Meeting ...
(Date:6/22/2016)... , June 22, 2016   ... management and verification solutions, has partnered with ... software solutions for Visitor Management, Self-Service Kiosks ... provides products that add functional enhancements to ... provides corporations and venues with an automated ...
(Date:6/22/2016)... On Monday, the Department of Homeland Security ... solutions for the Biometric Exit Program. The Request for ... (CBP), explains that CBP intends to add biometrics to ... United States , in order to deter visa ... Logo - http://photos.prnewswire.com/prnh/20160622/382209LOGO ...
Breaking Biology News(10 mins):
(Date:6/27/2016)... ... June 27, 2016 , ... ... on what they believe could be a new and helpful biomarker for malignant ... Click here to read it now. , Biomarkers are components in ...
(Date:6/27/2016)... ... 2016 , ... Parallel 6 , the leading software as a service ... Virtual Patient Encounter CONSULT module which enables both audio and video telemedicine communication ... , Using the CONSULT module, patients and physicians can schedule a face to face ...
(Date:6/27/2016)... ... June 27, 2016 , ... Newly created ... services and solutions to the healthcare market. The company's primary focus is on ... sales and marketing strategies that are necessary to help companies efficiently bring their ...
(Date:6/27/2016)... Hill, N.C. (PRWEB) , ... June 27, 2016 ... ... U.S. commercial operations for Amgen, will join the faculty of the University ... serve as adjunct professor of strategy and entrepreneurship at UNC Kenan-Flagler, with a ...
Breaking Biology Technology:
Cached News: