Impaired lipolysis leads to severe metabolic disorder

May 28, 2014
Impaired lipolysis leads to severe metabolic disorder

(HealthDay)—Genetic mutation causing interference with encoding of hormone-sensitive lipase (HSL) results in susceptibility to metabolic disorders, according to research published online May 21 in the New England Journal of Medicine.

Jessica S. Albert, Ph.D., of the University of Maryland in Baltimore, and colleagues used genetic sequencing in Old Order Amish participants with fasting serum triglyceride levels at the lower and upper extremes of the distribution. The authors sought to identify a mutation in the gene encoding HSL, a key enzyme for lipolysis. The researchers also obtained biopsy specimens of adipose tissue from participants who were homozygous (DD genotype), heterozygous (ID genotype), or noncarriers (II genotype) for the deletion mutation.

The researchers found that carriers of the deletion mutation in the gene encoding HSL had dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes. Absence of HSL protein, small adipocytes, impaired lipolysis, insulin resistance, and inflammation were observed in from participants with the DD genotype. Down-regulation of transcription factors responsive to peroxisome-proliferator-activated receptor γ and downstream target genes in those with the DD genotype was associated with altered regulation of pathways influencing adipogenesis, insulin sensitivity, and lipid metabolism.

"These findings indicate the physiological significance of HSL in adipocyte function and the regulation of systemic lipid and glucose homeostasis and underscore the severe metabolic consequences of impaired lipolysis," the authors write.

Explore further: Researchers identify fat-storage gene mutation that may increase diabetes risk

More information: Abstract
Full Text

Related Stories

Researchers identify fat-storage gene mutation that may increase diabetes risk

May 22, 2014
Researchers at the University of Maryland School of Medicine have identified a mutation in a fat-storage gene that appears to increase the risk for type 2 diabetes and other metabolic disorders, according to a study published ...

Gene behind unhealthy adipose tissue identified

May 22, 2014
Researchers at Karolinska Institutet in Sweden have for the first time identified a gene driving the development of pernicious adipose tissue in humans. The findings imply, which are published in the scientific journal Cell ...

Study finds important factor in fat storage and energy metabolism

January 6, 2013
As part of their ongoing research on the physiologic factors that contribute to the development of obesity, Joslin Diabetes Center scientists have identified a cell cycle transcriptional co-regulator – TRIP-Br2 – that ...

Pot smoking linked to some metabolic changes

April 19, 2013
(HealthDay)—Regularly smoking pot is associated with visceral adiposity and adipose tissue insulin resistance, but not other metabolic changes such as impaired β-cell function or hepatic steatosis, according to a study ...

Genes may thwart seniors' exercise gains

March 14, 2014
Keeping strong and physically fit is crucial to maintaining independence among the elderly. Exercise has repeatedly been shown to reduce or slow age-related declines in physical function and is a widely recommended for seniors, ...

Study shows overeating impairs brain insulin function, can lead to diabetes and obesity

October 17, 2012
New research from Mount Sinai School of Medicine sheds light on how overeating can cause a malfunction in brain insulin signaling, and lead to obesity and diabetes. Christoph Buettner, MD, PhD, Associate Professor of Medicine ...

Recommended for you

New understanding of how muscles work

August 23, 2017
Muscle malfunctions may be as simple as a slight strain after exercise or as serious as heart failure and muscular dystrophy. A new technique developed at McGill now makes it possible to look much more closely at how sarcomeres, ...

Scientists find RNA with special role in nerve healing process

August 22, 2017
Scientists may have identified a new opening to intervene in the process of healing peripheral nerve damage with the discovery that an "anti-sense" RNA (AS-RNA) is expressed when nerves are injured. Their experiments in mice ...

Mouse model of human immune system inadequate for stem cell studies

August 22, 2017
A type of mouse widely used to assess how the human immune system responds to transplanted stem cells does not reflect what is likely to occur in patients, according to a study by researchers at the Stanford University School ...

Researchers offer new targets for drugs against fatty liver disease and liver cancer

August 22, 2017
There may no silver bullet for treating liver cancer or fatty liver disease, but knowing the right targets will help scientists develop the most effective treatments. Researchers in Sweden have just identified a number of ...

Bio-inspired materials give boost to regenerative medicine

August 18, 2017
What if one day, we could teach our bodies to self-heal like a lizard's tail, and make severe injury or disease no more threatening than a paper cut?

Make way for hemoglobin

August 18, 2017
Every cell in the body, whether skin or muscle or brain, starts out as a generic cell that acquires its unique characteristics after undergoing a process of specialization. Nowhere is this process more dramatic than it is ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.