Batten disease is linked to altered expression of mitochondria-related metabolic molecules

• Batten disease (BD) cells show higher ROS levels and death rates than normal cells.
• BD cells exhibit a different expression profile of mitochondria-related metabolic molecules compared to normal cells.
• Suppression of proapoptotic activity of GD3 ganglioside by acetylation is inefficient in BD cells.
• The percentage of mitochondrial membrane-depolarized BD cells is higher than that of normal cells.

Batten disease (BD)—also known as juvenile neuronal ceroid lipofuscinoses—is an inherited neurodegenerative disorder caused by CLN3 gene mutations. Although CLN3-related oxidative and mitochondrial stresses have been studied in BD, the pathologic mechanism of the disease is not clearly understood. To address the molecular factors linked to high levels of oxidative stress in BD, we examined the expression of mitochondria-related metabolic molecules, including pyruvate dehydrogenase (PDH), ATP citrate lyase (ACL), and phosphoenolpyruvate carboxykinase (PEPCK), as well as the apoptosis-related ganglioside, acetyl-GD3. We observed an increased expression of PDH and a decreased expression of ACL, PEPCK, and acetyl-GD3 in BD lymphoblast cells compared to normal cells, possibly resulting in the high ROS levels, mitochondrial membrane depolarization, and apoptosis typically found in BD.