Autophagy Role In Human Physiology

Researchers led by Newcastle University, UK found a group of patients with the neurological disease who lack a critical cell process called Autophagy. The work is published today in the New England Journal of Medicine.

These patients deliver an unusual insight into the role of Autophagy in human physiology which may have significant implications for research and therapies in many conditions, including neurodegeneration and cancer. Many cells in our body, such as those which make up our brain, need to last a lifetime. To do this, our cells have developed ways of protecting themselves.

This includes a process called Autophagy, which means self-eating where damaged components are collected together and removed from the cell. This process is very significant for the body to function properly as an accumulation of damage in cells has been linked to several diseases, including dementia.The process is also the route used by cells to maintain nutrient levels and has long been considered an essential process based on previous studies in genetically modified mice that have an absence of Autophagy and die within 24 hours after birth. Similarly, failure of the self-eating pathway in humans was thought to mean that people could not survive.

In the study, researchers found that in five families, a change in a key gene essential for self-eating causes a very specific form of neurological disease. In exceptional circumstances, it appears that these patients may survive into adulthood despite defective Autophagy and it is this group the researchers have identified. Using state-of-the-art DNA sequencing technologies, researchers identified disease-causing sequence changes in the ATG7 gene in 12 patients with neurological disease from five families.