Mutations in CLN3 cause Batten Disease.

Mutations in CLN3 cause Batten Disease, but scientists do not fully understand the role of CLN3 in cell function. To learn more about this gene, Researchers at University College London created a variety of mutations in CLN3 gene defects in Batten patients were identified. They studied the effects of these mutations in a fission yeast protein similar to CLN3. The research team found that human mutations that caused a severe Batten disease progression likewise caused severe cell abnormalities in the yeast. Also found mutations resulted in mild cases of Batten disease in less severe yeast cell changes.

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