News tagged with metabolic defect


Defective cellular waste removal explains why Gaucher patients often develop Parkinson's disease

Gaucher disease causes debilitating and sometimes fatal neurodegeneration in early childhood. Recent studies have uncovered a link between the mutations responsible for Gaucher disease and an increased risk ...

Parkinson's & Movement disorders created May 23, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Discovery of human genetic mutation could lead to new treatments for type 1 diabetes

In type 1 diabetes, the immune system destroys insulin-producing cells in the pancreas, but the precise cause has not been clear. A study published by Cell Press on March 5th in Cell Metabolism reveals that a ...

Genetics created Mar 05, 2013 | popularity 5 / 5 (2) | comments 0 | with audio podcast

Why living against the clock is a risky business

Living against the clock—working late-night shifts or eating at inappropriate times, for example—can come with real health risks, metabolic syndrome, obesity, and diabetes among them. Now, researchers reporting in Current Bi ...

Medical research created Feb 21, 2013 | popularity 5 / 5 (2) | comments 0

Binge drinking increases risk of Type 2 diabetes by causing insulin resistance

Binge drinking causes insulin resistance, which increases the risk of Type 2 diabetes, according to the results of an animal study led by researchers at the Diabetes Obesity and Metabolism Institute at the Icahn School of ...

Diabetes created Jan 30, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Lack of key enzyme in the metabolism of folic acid leads to birth defects

Researchers at The University of Texas at Austin have discovered that the lack of a critical enzyme in the folic acid metabolic pathway leads to neural tube birth defects in developing embryos.

Medical research created Jan 17, 2013 | popularity not rated yet | comments 0 | with audio podcast

Diet may treat some gene mutations

Scientists have moved a step closer to correcting some unhealthy gene mutations with diet, according to a new research report appearing in the April 2012 issue of the journal Genetics. Researchers from the University of Cal ...

Genetics created Apr 09, 2012 | popularity not rated yet | comments 0 | with audio podcast

Hot on the trail of metabolic diseases and resistance to antibiotics

Proteins belonging to the large and important family of ABC transporters have been associated with metabolic diseases and can cause resistance to antibiotics. Biochemists from the University of Zurich and the NCCR Structural ...

Medical research created Mar 28, 2012 | popularity not rated yet | comments 0

Study finds clue to birth defects in babies of mothers with diabetes

In a paper published today in Diabetologia, a team at Joslin Diabetes Center, headed by Mary R. Loeken, PhD, has identified the enzyme AMP kinase (AMPK) as key to the molecular mechanism that significantly increases the ri ...

Diseases, Conditions, Syndromes created Oct 17, 2011 | popularity not rated yet | comments 0

In next-gen DNA sequence, new answers to a rare and devastating disease

In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering ...

Medical research created Sep 06, 2011 | popularity 5 / 5 (2) | comments 0 | with audio podcast