Pick’s disease, a rare and early-onset neurodegenerative disorder, is a form of frontotemporal dementia that primarily affects individuals under the age of 65. Characterized by changes in personality, behavior, and sometimes language impairment, Pick’s disease remains a mystery due to its unknown genetic origin.
The condition is distinguished by the buildup of tau proteins, which form abnormal clumps called Pick bodies. These clumps hinder the brain’s access to essential nutrients, leading to neurodegeneration. A definitive diagnosis of Pick’s disease can only be made posthumously by examining brain tissue under a microscope.
A team of international researchers, including those from the Mayo Clinic in Florida and University College London, have formed the Pick’s Disease International Consortium to investigate the link between a specific MAPT gene variation, MAPT H2, and the disease. This gene variant is responsible for producing the tau protein and driving the development of Pick’s disease.
Mayo Clinic researchers were the first to identify MAPT gene mutations for a behavioral form of dementia in 1998, paving the way for understanding the mechanisms of tau-related diseases. This latest study confirms a genetic factor linked to Pick’s disease, opening up new possibilities for therapeutic design.
Dr. Owen Ross, a Mayo Clinic neuroscientist and senior author of the study, shares, “Our research could have significant implications for the development of therapies for Pick’s disease and other related neurodegenerative diseases, such as Alzheimer’s disease and progressive supranuclear palsy. The consortium maintains a database of clinical, pathological, and demographic information from patients with the disease who have donated their brain tissue for scientific research.”
To conduct the study, the researchers analyzed brain samples from 338 patients diagnosed with Pick’s disease and compared them with blood samples from 1,312 neurologically healthy individuals. The team collected samples from various brain banks and hospitals in North America, Europe, and Australia between 2020 and 2023, with the Mayo Clinic Brain Bank providing a significant contribution.
The researchers recorded baseline information on study participants, including age at disease onset, age at death for those with Pick’s disease, and sex and age at blood collection for the control group. They also calculated disease duration by subtracting the age at Pick’s disease onset from the age at death. Additionally, they examined clinical characteristics such as clinical diagnosis and impairment in behavior and language.
The team discovered that the MAPT H2 genetic variant increases the risk of Pick’s disease in individuals of European descent. This finding was only possible due to the global consortium, which significantly increased the sample size of pathology cases for study.
The researchers’ future plans include expanding the consortium to include participants from the Middle East, Asia, Africa, and Latin America, further resolving the genetic architecture of the disease, and assessing this specific genetic variant as a potential biomarker or test for
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1. Source: Coherent Market Insights, Public sources, Desk research
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