Obesity and genes. What is the Bardet-Biedel syndrome?

The Bardet-Biedel syndrome (BBS) is a rare, complicated genetic disease.

The BBS team affects 1 in 250 thousand people around the world. It is diagnosed in early childhood. Morbid obesity is one of the main symptoms of BBS. What are the causes of the Bardet-Biedel syndrome and how is this condition treated? 


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The syndrome is a group of congenital symptoms and defects that accompany a specific genetic disorder. The BBS syndrome is characterized most often by obesity, retinal degeneration, polydactin, delay in intellectual development and renal failure. 

The name of the Bardet-Biedel syndrome (BBS, from the Bardet-Biedl Syndrom) comes from two of its discoverers. The first was the French physician Georges Louis Bardet, and the second Hungarian pathologist and endocrinologist Arthur Biedl. The first case of BBS was described in the 1920s. 

Based on tests performed in about 75 percent people with BBS, currently 21 genes are known that trigger this syndrome. However, regardless of the gene, the main cause of the BBS syndrome is improper construction and / or disturbed operation of the so-called primary cilia. Cilia are thin, cap-like structures resembling projections. They occur on the surface of almost all cells of our body. There are different types of cilia that perform different functions. For the BBS team, the so-called primary cilia, whose task is to transfer information between cells. They act a bit like radio antennas broadcasting and receiving messages from one to the other, what to do and how to react. It is the primary cilia that are responsible for the transmission of such data as, for example, the type and level of chemicals in the urine, the sensation of smell, taste and balance.

In the BBS syndrome, due to defective cilia, this intercellular communication is disrupted, which contributes to the birth of many congenital defects and disease symptoms. 

BBS is diagnosed on the basis of genetic tests revealing mutations within specific genes, as well as sets of main (large) and secondary (small) traits. A BBS syndrome is considered to be present in a person if at least three main characteristics and at least two secondary characteristics are noted. 

Symptoms of the BBS syndrome can occur in different people in varying degrees.

While, for example, some children with BBS have problems with acquiring new knowledge, in others, the IQ is well above normal. Such disproportions are also noticeable in children with BBS being siblings. 

The BBS team is currently incurable.

Work on the drug on BBS is ongoing, but it is still a long way to its invention. Researchers are now trying to understand the cellular mechanisms that ultimately cause BBS. Drug research is conducted in three areas.

Although there is no cure for BBS, it does not mean that nothing can be done to help patients with this syndrome. Medical interventions, however, relieve the symptoms and side effects of the disease. Obesity, for example, is treated with conservative methods, ie appropriate diet and physical activity, in order to prevent the development of disease and the occurrence of complications that are dangerous for health and life. Additional fingers are removed, and the separated ones are separated, which allows for proper positioning of the foot in the shoe and better movement. Developmental disorders are eliminated in therapeutic classes for children, adults with intellectual disabilities. 


You can read also: Diet and exercise as one of the main ways to lose body fat

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