Jesse's+Mutation+Project

=Bardet-Biedl Syndrome (BBS)=

Gene mutations are occasions where genes in an organism develop irregularly, causing symptoms that almost always have a negative effect on the body. Most times, physical effects are produced that negatively affect how the body of that organism functions. Bardet-Biedl Syndrome is a rare genetic disorder that affects many parts of the body. Only about 1 in 100,000 children have the disease, but those who do have it have multiple disorders in development throughout their bodies.

Symptoms

 * Visual impairments from rod-cone distrophy, including general impairment, tunnel vision, and various levels of blindness extending to complete lack of light perception
 * Obesity in early childhood
 * Extra fingers and toes or fused fingers and toes (polydactyly and syndactyly)
 * Renal abnormalities (problems concerning the kidneys)
 * Developmental and speech delays, and learning disabilities
 * Underdeveloped genitals in males



Causes of Bardet-Biedl Syndrome
This disease is caused by mutations in Chromosome 11 with the BBS1 gene and in Chromosome 16 with the BBS2 gene. People who are born with mutations in these genes will have the symptoms of Bardet-Biedl Syndrome. The gene is recessive, and offspring of those who are carriers of it have a 1 in 4 chance of having the effects of the disease.

The BBS1 gene, when mutated, will cause type 1 of Bardet-Biedl Syndrome. The effected protien in this mutation is known to cause problems in eye, limb, cardiac, and reproductive system development.

The BBS2 gene, when mutated, will cause type 2 of Bardet-Biedl Syndrome. The effected protien in this mutation may cause vision problems, obesity, extra or disformed digits, kidney problems, and mental retardation; however, the exact function of this effected gene is unknown as of now. The mutations that occur when the BBS2 gene is mutated are only observed, and it is not known for certain if the effected protein is what causes these physical mutations.

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Everyone has the BBS1 and BBS2 genes on Chromosome 11 and Chromosome 16 (the gene is only named this because this is where the mutation occurs in carriers of Bardet-Biedl Syndrome). However very few people actually carry the disease. There is no information available at this time as to exactly what type of mutation occurs in these genes, but the diseases is defintely caused by a mutation in the BBS1 ad BBS2 genes. Bardet-Biedl Syndrome has been around for many years, but only recently have studies been conducted that actually provide insight as to what cuases it. Studies conducted as recently as 2008 have determined, for the first time, the genes and gene locations of mutations that cause BBS.



Treatments for Symptoms of BBS

 * For retinal dysfunction, there are currently no treatments. Vision impairment can be aided temporarily by the use of glasses or contacts, but eventually light perception will still be eliminated, and blindness will occur.
 * For underdevelopment in males, hormones can be injected during to puberty (this can be done in both males and females, if they are affected).
 * For mutated digits such as fingers and toes, surgery can sometimes be used to correct bones that are fused together, but this is not always successful.
 * Obesity can be aided with a carefully controlled diet, but cannot always be completely solved in people with BBS.