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:6/7/2016)... 7, 2016  Syngrafii Inc. and San Antonio ... that includes integrating Syngrafii,s patented LongPen™ eSignature "Wet" ... collaboration will result in greater convenience for SACU ... while maintaining existing document workflow and compliance requirements. ... Highlights: ...
(Date:6/2/2016)... -- Perimeter Surveillance & Detection Systems, Biometrics ... Support & Other Service  The latest report ... analysis of the global Border Security market . ... $17.98 billion in 2016. Now: In November ... software and hardware technologies for advanced video surveillance. ...
(Date:5/16/2016)... , May 16, 2016   EyeLock LLC , ... announced the opening of an IoT Center of Excellence ... and expand the development of embedded iris biometric applications. ... level of convenience and security with unmatched biometric accuracy, ... identity aside from DNA. EyeLock,s platform uses video technology ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... ... June 23, 2016 , ... In a new case report published ... how a patient who developed lymphedema after being treated for breast cancer benefitted from ... the paradigm for dealing with this debilitating, frequent side effect of cancer treatment. ...
(Date:6/23/2016)... Andrew D Zelenetz ... Published recently in Oncology ... touchONCOLOGY, Andrew D Zelenetz , discusses the ... is placing an increasing burden on healthcare systems ... With the patents on many biologics expiring, interest ...
(Date:6/23/2016)... ... June 23, 2016 , ... ... regulatory and technical consulting, provides a free webinar on Performing Quality ... 13, 2016 at 12pm CT at no charge. , Incomplete investigations are still ...
(Date:6/23/2016)... India , June 23, 2016 ... media market research report to its pharmaceuticals section ... profiles, product details and much more. ... spread across 151 pages, profiling 15 companies and ... available at http://www.reportsnreports.com/reports/601420-global-cell-culture-media-industry-2016-market-research-report.html . ...
Breaking Biology Technology:
Cached News: