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Establishment of a Surgically-induced Model in Mice to Investigate the Protective Role of Progranulin in Osteoarthritis
Published on: February 25, 2014
Progranulin and frontotemporal lobar degeneration.
1Division of Regenerative Medicine, Stopford Building, University of Manchester, Oxford Road, Manchester, M13 9PT, UK. SPB@Manchester.ac.uk
Acta Neuropathologica
|June 19, 2007
Summary
Frontotemporal lobar degeneration (FTLD) involves non-Alzheimer
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Frontotemporal lobar degeneration (FTLD) encompasses frontotemporal dementia, semantic dementia, and progressive non-fluent aphasia.
- Understanding FTLD etiology has advanced with the identification of genetic mutations.
Purpose of the Study:
- To summarize current knowledge on the genetic underpinnings of FTLD.
- To highlight the roles of tau and progranulin gene mutations in FTLD pathogenesis.
Main Methods:
- Review of recent genetic discoveries in FTLD.
- Analysis of the molecular mechanisms associated with tau and progranulin mutations.
Main Results:
- Mutations in the tau gene impact microtubule binding and fibril formation.
- Progranulin gene mutations lead to TDP-43 accumulation via haploinsufficiency.
- These genetic factors account for 10-20% of FTLD cases.
Conclusions:
- Tau and progranulin gene mutations are significant contributors to FTLD.
- Further research is needed to fully elucidate the complexities of this heterogeneous disorder.
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