FOXP2 Expression in Frontotemporal Lobar Degeneration-Tau

Area of Science:

• Neuroscience
• Genetics
• Neurology

Background:

• The FOXP2 gene is crucial for speech and language development.
• Alterations in FOXP2 expression are implicated in various language disorders.
• Frontotemporal degeneration tauopathies are a group of neurodegenerative diseases affecting the frontal and temporal lobes.

Purpose of the Study:

• To investigate FOXP2 mRNA and protein expression in patients with Pick's disease and frontotemporal lobar degeneration-tau (FTLD-tau).
• To compare FOXP2 expression in affected individuals with age-matched controls and those with progressive supranuclear palsy (PSP).
• To examine FOXP2 expression changes in a mouse model of tauopathy during disease progression.

Main Methods:

• Quantitative analysis of FOXP2 mRNA and protein levels in post-mortem brain tissue (frontal cortex area 8).
• Comparison of patient data with healthy controls and PSP cases.
• Assessment of FOXP2 expression in the somatosensory cortex of transgenic mice (P301S MAPT mutation) versus wild-type littermates.

Main Results:

• Significantly reduced FOXP2 mRNA and protein expression were found in frontal cortex area 8 of individuals with Pick's disease and P301L-linked FTLD-tau compared to controls and PSP cases.
• FOXP2 mRNA and protein levels decreased with disease progression in the somatosensory cortex of P301S mutant mice.
• These reductions were observed in the context of language impairment in human patients.

Conclusions:

• FOXP2 expression abnormalities are present in sporadic and familial frontotemporal degeneration tauopathies.
• Reduced FOXP2 may contribute to the language deficits observed in these neurodegenerative conditions.
• The study provides evidence for a link between FOXP2 dysregulation and tauopathies affecting language.