Achondroplasia Awareness

Achondroplasia, a form of short-limbed dwarfism, affects people around the world. It is caused by a mutation in the FGFR3 gene,or fibroblast growth factor receptor 3. This gene is responsible for coding for a protein involved in receiving signals to stimulate bone tissue development. The protein limits bone formation from cartilage, referred to as ossification. When the gene mutates, the body is sent into overdrive, affecting proper bone growth and skeletal formation. 1 out of 15,000 to 40,000 babies have this genetic abnormality.

Inheritance of the achondroplasia gene mutation is autosomal dominant, with two copies of the mutated gene exhibiting an even more severe case of the disease, usually resulting in a stillborn or infant death. Dwarfism displayed in an individual with average-sized parents is the result of a new mutation to the gene.

I have personal experience with this disease, as a close friend grew up with it. He functions almost completely normally in society; doing well and school and even obtaining his driver’s license. His biggest problem is bullying and discrimination from peers, though most friends who grew up with him are completely accepting of his condition. Maybe drawing attention to this disease will be able to eliminate bullying and stereotypes that surround dwarfism and other genetic disorders. Hopefully advancements in science will eventually result in treatment or a cure, but until then a short time fix could be eliminating ignorance about this disease.

Rare Genetic Disease Found to Protect Against Bipolar Disorder

Scientists lead by researchers at university of Massachusetts Medical School and University of Miami Miller School of Medicine believe they have identified an essential pathway that influences bipolar disorder. They believe their findings can lead to a better treatment of bipolar disorder and other related mood disorders. The research was based on Old Order Amish families in Pennsylvania who had a high occurrence of bipolar disorder and have a rare genetic dwarfism known as Ellis van-Creveld (EvC) syndrome. Using 40 years of documentation across several generations, researchers found that no person with EvC ever reported with bipolar disease. These finding lead researchers to believe that this genetic conditions protects against bipolar affective disease.

            

Bipolar affective disorder is an illness known for recurring swings of mania to periods of extreme sadness and depression. Periods of mania usually involve a person with abnormally high energy leading to sleep reduction. A person is abnormally impulsive, happy, and energetic. The periods of depression are characterized by crying, and a negative perception of the world.

Studies have already proven that there are genetic components that lead to the illness. Genetic mutations that disrupt a signaling pathway called Sonic Hedgehog (Shh) produce EvC dwarfism. Statistical analyses found a significant negative correlation between EvC and bipolar disorder. I believe this study offers insight on improving treatment for devastating disorders such as bipolar disease. It is interesting to see how beneficial an observational based study can be. Further, it makes me wonder what other mechanisms could be interacting and inhibiting one another that have yet to be discovered. Overall, this study has both medical and research-based implications.

Article: http://www.medicalnewstoday.com/releases/283924.php 

Dwarf Dogs

The mutation gene that causes dwarfism in dogs has been identified. The ITGA10 gene mutation contributes to the disease chondrodysplasia. This disease causes shorter limbs and long-term effects included bow-leggedness and disproportionate femoral heads. Scientists have identified the disease in the Karelian Bear Dog as well as the Norwegian Elkhound. Affected dogs and healthy dogs were compared in order to isolate the precise gene mutation. The ITGA10 gene is important in the process of growth in the long bones. The mutation of this gene is caused by the change in one nucleotide that prematurely ends the stop codon. 

This information could not only benefit dogs but also humans. Through the analysis of the gene mutation of ITGA10, scientists could discover more about chondrodysplasia. Currently, there are few known causes about the disease. In order to prevent this disease in dogs, pet owners are permitted to have genetic screening for their dog in which they can test for the ITGA10 gene mutation. In doing this, owners could potentially stop breeding their dogs that carry the gene and eventually rid them of the mutation entirely.


http://www.sciencedaily.com/releases/2013/09/130926102429.htm

Achondroplastic Dwarfism

[caption id="attachment_3721" align="alignright" width="333" caption="Warwick Davis has achondroplastic dwarfism and is a successful actor. He is well known for his roles in Harry Potter and Star Wars.  "][/caption]

This article, written by Arthur Schoenstadt, talks about Achondroplastic dwarfism. Achondroplastic dwarfism is the most common type of dwarfism. The dwarfism is caused by a mutation in the protein which allows the cartilage to converge with a head of a bone. In medical terms the process of cartilage converging to bone is referred to as ossification. The FGFR3 gene carries the instructions to create the protein that allows for successful ossification.  FGFR3 gene stands for fibroblast growth factor receptor 3.  Although this form of dwarfism can also be inherited by an autosomal dominant mode, scientists still do not know what causes the mutation.   If one parent has achondroplastic dwarfism their offspring will have 50 percent chance of inheriting the FGFR3 gene.

All people who inherit achondroplastic dwarfism are small in stature.  The average for an adult male is 4 feet and 4 inches and 4 feet 1 inch for adult females.  On average they have a proportional trunk with disproportinate arms and legs.  Their head and forehead are disproportinately large.  Adults who have achondroplastic dwarfism usually develop lordosis in their back and the legs tend to bow.  There is no cure for dwarfism but it is not a very common inheritable trait and is very manageable.

There needs to be more research pertaining to the cause of the mutation.  Most people with dwarfism live a very normal life and are able to modify things such as car pedals to perform everyday tasks.  We need to be developing more ways to treat their symptoms and try and prevent any complications that can occur from dwarfism.  Since we have isolated the gene there should be advancement in gene therapy to counteract the mutation.