Cellular problem discovered behind syndrome of obesity, learning disabilities

November 06, 2003

A research team led by Johns Hopkins scientists has discovered a potential new contributor to obesity -- faulty cilia.

Many a high school biology student has glanced into a microscope to see the planet's smallest animals -- paramecia and the like -- being propelled by the waving, hair-like projections known as cilia. But cilia are also found in human cells, helping move fluid and mucus around in the brain, lung, eye and kidney, or sticking out from cells to act like antennae.

Studying families with a relatively rare condition called Bardet-Biedl syndrome (BBS) -- characterized by obesity, learning disabilities and eye and kidney problems -- the researchers discovered a new gene involved. Furthermore, the gene's protein, BBS8, is found only at the base of cilia, the scientists are scheduled to report at an 8:45 a.m. presentation on Thursday, Nov. 6.

"BBS is a relatively rare genetic disorder, but it has traits common to many people," says Nicholas Katsanis, Ph.D., assistant professor in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins. "We don't know yet how the ciliary defect might lead to obesity or learning disabilities, but the finding provides a new avenue to studying these genetically murky traits."

Some aspects of BBS have been linked to ciliary defects in other conditions. Cilia are known to play key roles in mammalian development, creating what's known as left-right asymmetry so organs like the heart, lungs and liver end up in the right place. In people with BBS, sometimes left-right asymmetry is reversed. Also, malfunctioning cilia in the back of the eye are known to cause retinal dystrophy and eventual blindness, and problems with cilia in the kidney lead to structural problems in the organ.

But even though these primary characteristics of BBS had been tied to ciliary defects, the condition itself and its other traits -- obesity, learning disabilities, extra fingers, and diabetes -- have never before been linked to cilia. The research finding opens a never-before-pursued avenue to understanding these attributes in the general population. (Abstract #38)
-end-
On the Web: http://www.ashg.org

Johns Hopkins Medical Institutions' news releases are available on an EMBARGOED basis on EurekAlert at http://www.eurekalert.org and from the Office of Communications and Public Affairs' direct e-mail news release service. To enroll, call 410-955-4288 or send e-mail to bsimpkins@jhmi.edu.

On a POST-EMBARGOED basis find them at http://www.hopkinsmedicine.org.

Johns Hopkins Medicine

Related Obesity Articles from Brightsurf:

11 years of data add to the evidence for using testosterone therapy to treat obesity, including as an alternative to obesity surgery
New research covering 11 years of data presented at this year's European and International Congress on Obesity (ECOICO 2020) show that, in obese men suffering from hypogonadism (low testosterone), treatment with testosterone injections lowers their weight and improves a wide range of other metabolic parameters.

Overlap between immunology of COVID-19 and obesity could explain the increased risk of death in people living with obesity, and also older patients
Data presented in a special COVID-19 session at the European and International Congress on Obesity (ECOICO 2020) suggests that there are overlaps between the immunological disturbances found in both COVID-19 disease and patients with obesity, which could explain the increased disease severity and mortality risk faced by obese patients, and also elderly patients, who are infected by the SARS-CoV-2 virus that causes COVID-19 disease.

New obesity guideline: Address root causes as foundation of obesity management
besity management should focus on outcomes that patients consider to be important, not weight loss alone, and include a holistic approach that addresses the root causes of obesity, according to a new clinical practice guideline published in CMAJ (Canadian Medical Association Journal) http://www.cmaj.ca/lookup/doi/10.1503/cmaj.191707.

Changing the debate around obesity
The UK's National Health Service (NHS) needs to do more to address the ingrained stigma and discrimination faced by people with obesity, says a leading health psychologist.

Study links longer exposure to obesity and earlier development of obesity to increased risk of type 2 diabetes
Cumulative exposure to obesity could be at least as important as actually being obese in terms of risk of developing type 2 diabetes (T2D), concludes new research published in Diabetologia (the journal of the European Association for the Study of Diabetes [EASD]).

How much do obesity and addictions overlap?
A large analysis of personality studies has found that people with obesity behave somewhat like people with addictions to alcohol or drugs.

Should obesity be recognized as a disease?
With obesity now affecting almost a third (29%) of the population in England, and expected to rise to 35% by 2030, should we now recognize it as a disease?

Is obesity associated with risk of pediatric MS?
A single-center study of 453 children in Germany with multiple sclerosis (MS) investigated the association of obesity with pediatric MS risk and with the response of first-line therapy in children with MS.

Women with obesity prior to conception are more likely to have children with obesity
A systematic review and meta-analysis identified significantly increased odds of child obesity when mothers have obesity before conception, according to a study published June 11, 2019 in the open-access journal PLOS Medicine by Nicola Heslehurst of Newcastle University in the UK, and colleagues.

Obesity medicine association announces major updates to its adult obesity algorithm
The Obesity Medicine Association (OMA) announced the immediate availability of the 2019 OMA Adult Obesity Algorithm, with new information for clinicians including the relationship between Obesity and Cardiovascular Disease, Diabetes Mellitus, Dyslipidemia, and Cancer; information on investigational Anti-Obesity Pharmacotherapy; treatments for Lipodystrophy; and Pharmacokinetics and Obesity.

Read More: Obesity News and Obesity Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.