Cure Sanfilippo Announces Support for Autophagy Research

August 28, 2018

Penn State University research team investigating Sanfilippo Syndrome, MPSIIICure Sanfilippo Foundation is pleased to award funding support to Dr. Scott Selleck and the Pennsylvania State University (Penn State) to study the cellular process of autophagy as a central mechanism in MPS (mucopolysaccharidosis) disease progression in the central nervous system.

Dr. Selleck’s prior research specialized in neurodevelopment, proteoglycan genetics and biochemistry. His neurodevelopment work has investigated the genetic basis of autism spectrum disorder and gene-environment interactions. Preliminary work with the Multiple Sulfatase Deficiency (MSD) fruit fly model has shown autophagy suppression, prompting Dr. Selleck to translate that finding to the mouse model in another MPS disorder.

Autophagy is a process by which cells engulf and dispose of misfolded proteins and damaged mitochondria that occur during normal metabolism and even more so in disease states. Research has shown that in Sanfilippo syndrome, as well as many other neurodegenerative diseases, there is an impairment in the body’s ability to carry out the autophagy process. This causes other parts of the cell to function poorly and eventually leads to cell death.

“Our focus is to provide both the scientific underpinnings and means of rescuing neuronal loss in children with MPS disorders. We hope these findings and methods will also translate to other neurodegenerative diseases.” Scott Selleck, MD, PhD.

This project will specifically look at the effects of activating autophagy in the brains of MPSIIIA mice, either directly, or by inhibiting Tor, a master regulator and suppressor of autophagy. Since mTOR is a universal pathway that is not disease specific, findings here would be translatable across MPS conditions and neurodegenerative disorders. This pathway will be studied both through genetic modification and the use of an FDA approved class of drugs known to block mTOR activity. This drug is currently used to treat children with tuberous sclerosis complex and has been shown to reduce seizure frequency and severity.

“Dr. Selleck’s work will provide further insight into a possible way to impact the neurodegenerative process in Sanfilippo syndrome, beyond replacing the primary enzyme deficiency. Developing complementary strategies, such as this, to improve the life of children with this devastating disease is a critical need,” said Dr. Cara O’Neill, Scientific Director at Cure Sanfilippo Foundation.

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Cure Sanfilippo Foundation is a 501(c)(3) not-for-profit organization dedicated to advocating for and funding research directed towards a cure and treatment options for patients with Sanfilippo Syndrome. Sanfilippo Syndrome, also called MPS III, is an inherited disease of metabolism that means the body cannot properly break down long chains of sugar molecules called mucopolysaccharides or glycosaminoglycans (i.e., GAGs). A genetic defect passed on from each parent results in missing or poorly functioning enzymes needed for cells to work normally. Without these enzymes, cells are unable to break down and recycle cellular waste. Over time, this waste builds up causing cells to act abnormally and then to die. Children with this genetic disease face a progressively debilitating and rapid decline in physical and intellectual abilities, leading to an early death.

For more information on the Cure Sanfilippo Foundation and Sanfilippo Syndrome, please visit Contact Cure Sanfilippo Foundation at

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