Researchers from Children’s Hospital of Philadelphia (CHOP) have discovered that a widely used nutritional supplement may significantly reduce the risk of fatal strokes caused by a rare genetic disorder. Additionally, the findings suggest that the supplement could be used to both block precipitation of and break up the formation of amyloid plaque deposits, a common feature found in serious forms of dementia.
The findings centered around a genetic disorder known as hereditary cystatin C amyloid angiopathy (HCCAA). HCCAA is part of a group of diseases in which amyloid proteins build up and deposits form on the walls of blood vessels in the central nervous system. Most people with the leucine to glutamine variant of hCC (L68Q-hCC) that causes this disorder suffer strokes and brain hemorrhages in their 20s, leading to paralysis, dementia and death as these strokes become more frequent. The amyloid deposits observed in cases of HCCAA are implicated in a wide range of neurodegenerative diseases, including Alzheimer’s, Parkinson’s, Creutzfeldt-Jacob’s and Huntington´s diseases.
“While this is a rare disease, most patients diagnosed with HCCAA die within five years of their first stroke, so there is an incredible need to study this genetic disorder and find effective treatment options,” said Hakon Hakonarson, MD, PhD, Director of the Center for Applied Genomics at CHOP and lead author of the study.
