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Genetic changes that result in near or total loss of a protein called autophagy related 7 (ATG7) are associated with complex neurodevelopmental disorders in humans, according to a study published June 24 in The New England Journal of Medicine. The protein, which controls a crucial step in an intracellular recycling process called autophagy, was thought to be essential for survival, because ATG7 knockout mice die shortly after birth.
Autophagy is an intracellular process of degradation that prevents buildup of damaged proteins and organelles and liberates essential nutrients during times of deficiency. During the multistep process, a double-layered membrane begins to form around the molecular cargo destined for degradation, forming a body called the autophagosome. As it forms, the membrane is decorated with proteins that help collect cargo. Once fully formed, the autophagosome fuses with a lysosome, and its contents are chemically and enzymatically degraded. Previous studies ...
