familial dysautonomia

biology research project

Why i chose to research this disorder.

I choose to research this disorder because it's the only one i found interesting out of the choices. This disease is also interesting because it affects people from birth and is quickly noticeable early on.

What happens to the body because of familial dysautonomia.

It affects the development and survival of certain cells. It disturbs the autonomic nerve system which controls involuntary actions. This disease affects digestion, tear production and body regulations such as blood and body temperature. Other effects are on the sensory nervous system which controls sight and how your body perceives temperature, hot, cold etc.

Symptoms

Problem appear during infancy, such as poor muscle tone, lack of tears, slow growth, problems being fed, lung infections and uneven body temperatures. Problems during young childhood may include frequently holding breath, development such as learning to walk or talk may be delayed. In adults walking without help and balance become issues, the lungs begin to worsen due to the number of infections suffered. Their eye sight may get worse as their optic nerves shrink, which carry signals to the brain from the eyes.

The cause of familial dysautonomia

Familial dysautonomia is caused by a mutation to the IKBKAP gene, which contains the instructions to make a protein called IKAP which is in many cells throughout the body including brain cells. The mutation causes cells to have two copies of IKBKAP and this causes a disruption in the production of IKAP. Some cells lack the protein but mostly brain cells and this lack of an important protein causes familial dysautonomia.

How the disorder is inherited

This disease is carried on the IKBKAP gene. It is a recessive disease which is not sex linked.

Disorder treatment

Their is no cure for this disease, but it can be managed slightly. Using medication to maintain and regulate cardiovascular, respiratory and gastrointestinal functions. Surgeries can be helpful, surgeries include fundoplication, gastrostomy, spinal fusion and tear duct cautery. Some therapies are used to help build strength and speach therapy.

How the disease is diagnosed.

They check the childs tongue, tear production and the childs reflexes. They also give the child a histamine shot. If a small red bump appears at the sight of the shot the child does not have FD, if nothing appears then they take a blood sample and test to check for the mutated IKBKAP gene.

The affected population

This disease affects mainly the Ashkenazi Jews of central and eastern Europe. It affects about 1 in 3700 in the Ashkenazi Jewish population. It is extremely rare in the general population. Doctors estimate 1 of every 30 Ashkenazi adults are carriers of the disease.

What I learned

I learned that familial dysautonomia is not curable and is caused by a mutated IKBKAP gene. It mainly affects the Ashkenazi Jewish population and is extremely rare outside of their population.