Juvenile Batten Disease

Posted by Kat in Batten

I did some extra credit work in my Biology class and wrote a brief write-up on three different diseases of the organelle. Here is my bit on Batten Disease:

NEURONAL CEROID LIPOFUSCINOSIS CLN3 (JUVENILE BATTEN DISEASE)

ORGANELLE: Lysosome

CAUSE

Juvenile Batten disease is inherited in an autosomal recessive pattern. Both parents of the affected child must have one copy of the defective gene (1.02 kb deletion) located on the 16th chromosome (in 73% of cases). Several children with Batten Disease have some form of mutation that has not been identified on any chromosome. The affected child with the “standard form” receives both copies of the “bad” gene, and, as a result suffers from the below listed symptoms and eventual death. Children born from 2 parents that have one copy of the “bad” gene have a 1 in 4 chance of receiving both “bad” copies, thus suffering from the disease. Juvenile Batten Disease causes improper lysosomal function which prevents the lysosome from adequately recycling waste material and causes fats and proteins to build up in the Brain, Retina and Central Nervous System. The cells in these three areas become excited and burn out (cell death).

SYMPTOMS

The symptoms of Juvenile Batten Disease generally manifest themselves when the child is between 5 to 10 years of age. In some children with this disease the first symptom is seizures (Grand Mal, Absence, Drop) but some children don’t start to seizure until much later. Other children might start showing symptoms of Vision Loss (which could be first diagnosed as Retinitis Pigmentosa) or Short Term (Working) Memory problems. As the disease progresses children will suffer uncontrollable seizures, become totally blind and will lose the ability to walk, talk, swallow, think, will become demented and suffer from severe hallucinations.

This disease has a 100% fatality rate, often causing death by the late teens or early 20’s. Also note that the brain of the affected child suffers from extensive atrophy during the course of the disease.

TREATMENTS

All treatments for Juvenile Batten Disease, at this time, are symptomatic. Seizure medications are useful in keeping the severity and frequency of seizures under control. Feeding tubes are placed when the child starts to have difficulty with swallowing to allow substantial nutrition. Multiple adaptive devices are used to assist the child with declining mobility and eventual paralysis.

Although there are no active drug trials to prevent or slow the outcome of this disease, there has been some research proving that this disease causes an autoimmune response. The University of Rochester is trying to organize funding to test the safety of Cellcept (Mycophenolate) because there is some proof that shows a decline and reversal of symptoms in mice that have had their good copies of the “Batten Disease Gene” knocked out.

FOR MORE INFORMATION: www.bdsra.org