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:10/4/2017)... 2017  GCE Solutions, a global clinical research organization (CRO), announces ... solution on October 4, 2017. Shadow is designed to assist medical ... policy 0070 of the European Medicines Agency (EMA) in meeting the ... ... ...
(Date:6/30/2017)... , June 30, 2017 Today, ... developer and supplier of face and eye tracking ... Featured Product provider program. "Artificial ... innovative way to monitor a driver,s attentiveness levels ... from being able to detect fatigue and prevent ...
(Date:5/16/2017)... May 16, 2017  Veratad Technologies, LLC ( www.veratad.com ... age and identity verification solutions, announced today they will ... 2017, May 15 thru May 17, 2017, in ... International Trade Center. Identity impacts the ... in today,s quickly evolving digital world, defining identity is ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... ... October 10, 2017 , ... The Pittcon ... awards honoring scientists who have made outstanding contributions to analytical chemistry ... Pittcon 2018, the world’s leading conference and exposition for laboratory science, which will ...
(Date:10/9/2017)... ... ... At its national board meeting in North Carolina, ARCS® Foundation ... Physics and Astronomy, has been selected for membership in ARCS Alumni Hall of ... Breakthrough Prize in Fundamental physics for the discovery of the accelerating expansion of the ...
(Date:10/7/2017)... ... October 06, 2017 , ... ... providing advanced instruments and applications consulting for microscopy and surface analysis, Nanoscience ... application consulting, Nanoscience Analytical offers a broad range of contract analysis services ...
(Date:10/6/2017)... Mass. (PRWEB) , ... October 06, 2017 , ... ... female entrepreneurship within the healthcare and technology sector at their fourth annual Conference ... panels featuring 30 inspiring speakers and the ELEVATE pitch competition showcasing early stage ...
Breaking Biology Technology:
Cached News: