Research led by the University of Rochester Medical Center sheds new light on the molecular mechanisms underlying the genetic disorder, juvenile neuronal ceroid lipofuscinosis (JNCL), also known as CLN3-Batten disease. New research reveals how the mutation associated with the disease could potentially lead to degeneration of light-sensing photoreceptor cells in the retina and subsequent vision loss. The recent study is published in the journal Communications Biology.
Batten disease is caused by a mutation in the CLN3 gene in chromosome 16. Most children suffering from JNCL have a missing part in the gene that inhibits the production of certain proteins. Rapidly progressive vision loss can start in children as young as 4, who eventually go on to develop learning and behavior problems, slow cognitive decline, seizures, and loss of motor control. Most patients with the disease die between the ages of 15 and 30.
“The prominence and early onset of retinal degeneration in JNCL makes it likely that cellular processes that are compromised in JNCL are critical for health and function of the retina,” said principal investigator Dr. Ruchira Singh. “It is important to understand how vision loss is triggered in this disease, what is primary and what is secondary, and this will allow us to develop new therapeutic strategies.”
Using a human model of engineered retinal cells, researchers found that functional CLN3 is necessary to support the retinal pigment epithelium (RPE) cell structure, the cell layer in the retina that nourishes light-sensing photoreceptor cells. This is critical for retina survival and function, and thereby vision.
Dr. Singh points out that understanding how RPE cell dysfunction contributes to photoreceptor cell loss in Batten disease is important first step, and it will enable researchers to target specific cell type in the eye using potential future gene therapies, cell transplantation, and drug-based interventions.
Read the full news release here: www.urmc.rochester.edu/del-monte-neuroscience/neuroscience-blog/february-2021/new-research-sheds-light-on-vision-loss-in-batten.aspx
Source: University of Rochester