Researchers at Mayo Clinic in Florida, University College London in England, and collaborators worldwide have established the Pick's Disease International Consortium to study a specific MAPT gene variation known as MAPT H2 that is linked to Pick's disease. The findings of the study have been reported in The Lancet Neurology.
"Our research could have profound implications for the development of therapies for Pick's disease and other related neurodegenerative diseases, including Alzheimer's disease and progressive supranuclear palsy," says Owen Ross, Ph.D., a Mayo Clinic neuroscientist and senior author of the paper.
The consortium, which hosts a database of clinical, pathological, and demographic information about patients with Pick's disease who donated their brain tissue for science, has made significant strides in understanding the genetic factors associated with the disease. The study involved investigating brain samples of 338 patients confirmed to have Pick's disease and comparing them with blood samples from 1,312 neurologically healthy individuals.
"We found that the MAPT H2 genetic variant is associated with an increased risk of Pick's disease in people of European descent," says Dr. Ross. "We were only able to determine that because of the global consortium, which greatly increased the sample size of pathology cases to study with Pick's disease."
The team's next steps involve expanding the consortium to regions in the Middle East, Asia, Africa, and Latin America to further understand the genetic architecture of the disease and potentially develop a clinical test or biomarker for diagnosing Pick's disease, for which there is currently no available clinical test.
The research at Mayo Clinic was supported by funding from various sources including the National Institutes of Health, the National Institute of Neurological Disorders and Stroke, and the State of Florida Ed and Ethel Moore Alzheimer’s Disease Research Program.
Mayo Clinic, a nonprofit organization dedicated to innovation in clinical practice, education, and research, continues to lead efforts in advancing the understanding and treatment of neurodegenerative diseases.
