Elsevier Connect

Health and Wellness

Scientists identify gene that regulates body weight in humans and mice

Study of a morbidly obese family provides new insights into the pathways that control weight and nutritional status

Research has pointed to the importance of genetic factors in human obesity and has shown that heritability plays a role in 40% to 90% of cases. Now investigators reporting online today in The American Journal of Human Genetics, published by Elsevier's Cell Press, have found that loss of a particular gene's function in humans and mice causes morbid obesity. The study of a morbidly obese family provides new insights into the pathways that control body weight and nutritional status, and the results could be useful for designing therapies for obesity and malnutrition.

[caption align="alignright" width="400"]Photo by John MartignettiResearch has pointed to the importance of genetic factors in human obesity and has shown that heritability plays a role in 40% to 90% of cases. Now investigators have found that loss of a particular gene's function in humans and mice causes morbid obesity. The study of a morbidly obese family, published in the American Journal of Human Genetics, provides new insights into the pathways that control body weight and nutritional status, and the results could be useful for designing therapies for obesity and malnutrition. (Photo by John Martignetti, MD, PhD)[/caption]"Starting with gene discovery in a single family with morbid obesity, these studies led to the identification a gene that seems to be fundamental to regulating nutritional status," said one of the senior authors, Dr. John Martignetti, Associate Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai in New York City. "This gene is shown to be present not only in humans and mice but also in the simplest known single-cell animal. Nature considers this gene so important that it has preserved its structure for more than 700 million years."

Dr. Martignetti and Dr. Adel Shalata, of the Ziv Medical Center in Safed, Israel, and their team analyzed a large Israeli Arab family affected by autosomal-recessive morbid obesity and identified a truncating mutation in the gene that recently was found to encode CEP19, a ciliary protein. When the investigators deleted the Cep19 gene in mice, the animals became obese and diabetic and had increased appetites, decreased energy expenditure, and impaired fat metabolism.

"The mouse models we have generated, which can be more than twice as heavy as other mice and are insulin resistant, represent important research tools for basic biology and clinical testing," said Dr. Martignetti.

The researchers note that the role of this ciliary protein in maintaining a balance between leanness and obesity remains unknown. Additional studies are needed if researchers are to determine the mechanisms behind CEP19's effects on appetite control, energy expenditure, and insulin signaling and sensitivity.

[pullquote align="right"]The mouse models we have generated, which can be more than twice as heavy as other mice and are insulin resistant, represent important research tools for basic biology and clinical testing. — John Martignetti, MD, PhD[/pullquote]

Uncovering the details behind the pathways that control body weight will only become more pressing with time.

"Obesity is a global epidemic, affecting almost all areas of human health, from heart disease to cancer, and impacting upon most of the major causes of preventable death," said Dr. Martignetti. "Moreover, obesity rates are rising dramatically worldwide. If we are going to combat this disease, we need to understand its medical basis."[divider]

Read the article

The article is freely available from Cell Press's American Journal of Human Genetics for two weeks, until December 5, 2013:

AJHG, Shalata et al.: "Morbid obesity in humans and mice resulting from inactivation of the ciliary protein MO1/CEP19" [divider]

Reporting for Elsevier Connect

Mary Beth O'LearyMary Beth O'Leary (@MaryBethPress) is Press Officer and Associate Media Relations Manager for Cell Press (@CellPressNews), based in Cambridge, Massachusetts. She began her career at Cell Press as an Senior Editorial Assistant for the journal Cell before transitioning into a role as Marketing/Publicity Coordinator. In December, she moved into her position as Press Officer for Cell Press's 29 journals. A graduate of the College of the Holy Cross in Worcester, Massachusetts, she studied literature and art history.



comments powered by Disqus

1 Archived Comment

Jack January 27, 2014 at 7:33 pm

Nice job on the picture Nolan!

Reply

Leave a Reply

Your email address will not be published. Required fields are marked *



Related Articles