Batten disease is a family of 13 rare, genetically distinct conditions. Collectively, they are the most prevalent cause of neurodegenerative disease in children, affecting 1 in 12,500 live births in the U.S. One of the Batten disease genes is CLN6. How mutations in this gene lead to the disease has been a mystery, but a study, led by researchers at Baylor College of Medicine and published online on June 29, 2020, in the Journal of Clinical Investigation (https://www.jci.org/articles/view/130955), reveals how defective CLN6 can result in Batten disease. The open-access article is titled “A CLN6-CLN8 Complex Recruits Lysosomal Enzymes at the ER for Golgi Transfer.” “People with Batten disease have problems with their cells' ability to clear cellular waste, which then accumulates to toxic levels," said first author Lakshya Bajaj (http://www.sardiellolab.com/lakshya-bajaj.html), DDS/PhD, who was working on this project while a doctorate student in the laboratory of Marco Sardiello (https://www.bcm.edu/research/baylor-research/faculty-recognition/debakey-awards/2019-award-recipients/marco-sardiello-ph-d), PhD, at Baylor. Dr. Bajaj is currently a post-doctoral associate at Harvard Medical School (https://www.linkedin.com/in/lakshya-bajaj-3637661a/). In cells, lysosomes process cellular waste. They are sacs containing enzymes, a type of proteins that break down waste products into its constituent components that the cell can recycle or discard. In Batten disease caused by mutations in CLN6 (ceroid lipofuscinosis, neuronal 6), the lysosomes do not process waste effectively for unknown reasons. This results in waste accumulation. Batten disease is a type of lysosomal storage disorder.
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