There are multiple forms of Batten disease, each with their own distinct genetic cause. One of these forms is caused by a mutated CNL6 gene, but researchers were unsure as to how the mutation led to the disease. According to Medical Xpress, medical professionals have discovered how this gene causes Batten disease.
About Batten Disease
Batten disease is also known as neuronal ceroid lipofuscinosis (NCL). It is a rare nervous system disorder linked to an accumulation of lipopigments in the body tissue, making it a lysosomal storage disorder. This buildup causes neuron death in the brain, retinas, and central nervous system. There are multiple forms of this disease, varying in severity and age of onset.
The symptoms include seizures, visual impairments, dementia, personality and behavior changes, loss of motor skills, and the loss of the ability to walk, talk, and communicate. Vision loss is often the way that Batten disease is diagnosed; doctors will notice it during an eye exam. This exam is followed by a clinical evaluation, an evaluation of clinical history, and lab tests. These tests include blood and urine tests, skin and tissue sampling, EEGs, electrical studies of the eyes, imaging tests, and enzyme activity measuring. There is no known cure for Batten disease, and treatment is symptomatic. Treatment consists of anticonvulsant drugs, cerliponase alfa, physical and occupational therapy, and vitamins C and E.
Medical professionals were already aware that genetic mutations led to issues with clearing cellular waste, which then caused a toxic accumulation. The result is cell death in the brain, central nervous system, and retinas. They also knew that a mutation in the CNL6 gene somehow caused Batten disease, but as it does not code for the lysosomes, they were unsure as to how.
It was an understanding of another gene, CNL8, that led medical professionals to their understanding of CNL6. They knew that defects in CNL8 caused issues with the transport of lysosomal enzymes from the endoplasmic reticulum to the lysosomes. They also knew that the manifestation of Batten disease caused by the CNL8 mutation was very similar to that of the CNL6 mutation. It was all of this information that has led them to believe that the CNL6 and CNL8 gene work as a team.
Further investigation showed that the two genes work together to form a molecular complex that groups together the lysosomal enzymes. Therefore, when CNL6 is mutated, the lysosomes cannot do their jobs, and toxic accumulations form.
While medical professionals acknowledge that more research needs to be done, these discoveries are very important in better understanding and better treating Batten disease.
Check out the original study here.