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Updated: May 29, 2026
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Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
Published on: March 24, 2019
New mutations in MAPT gene causing frontotemporal lobar degeneration: biochemical and structural characterization
Giacomina Rossi1, Antonio Bastone, Elena Piccoli
1Division of Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. grossi@istituto-besta.it
Neurobiology of Aging
|September 28, 2011
Summary
Two novel microtubule-associated protein tau (MAPT) gene mutations, P364S and G366R, linked to frontotemporal lobar degeneration (FTLD), were identified. These mutations impair tau
Area of Science:
- Neurogenetics
- Molecular Biology
Background:
- Frontotemporal lobar degeneration (FTLD) presents as sporadic or familial forms.
- Microtubule-associated protein tau (MAPT) and progranulin (GRN) genes are key in hereditary FTLD.
Observation:
- Genetic screening identified two new MAPT mutations: P364S and G366R.
- The P364S mutation was found in a patient with sporadic FTLD.
Findings:
- In vitro analysis revealed both P364S and G366R mutations reduce tau's ability to promote microtubule polymerization.
- The P364S variant demonstrated a significant propensity for filament aggregation.
- These functional effects suggest a high probability of pathogenicity for both mutations.
Implications:
- Highlights the importance of genetic analysis in sporadic FTLD cases.
- Emphasizes the utility of in vitro studies for evaluating novel mutation pathogenicity.
- Contributes to understanding the genetic underpinnings of FTLD.
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