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Modulation of Tau Subcellular Localization as a Tool to Investigate the Expression of Disease-related Genes
Published on: December 20, 2019
Brain tau expression and correlation with the H1/H1 tau genotype in frontotemporal lobar degeneration patients
1Alzheimer's Disease and Other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic and Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Abstract:
Alterations in tau mRNA splicing and association with H1/H1 tau genotype have been described in some sporadic tauopathies. We evaluated the 4R/3R tau mRNA ratio in 18 patients with frontotemporal lobar degeneration (FTLD), and the effect of the H1/H1 genotype on this ratio. The 4R/3R mRNA ratio in frontal cortex was similar in FTLD patients and controls. The H1/H1 genotype carriers showed a significant increase in 4R/3R mRNA ratio, suggesting that this genotype could modulate the tau mRNA splicing.
Insights
Frontotemporal lobar degeneration (FTLD) patients did not show altered tau mRNA splicing. However, the H1/H1 tau genotype was linked to increased 4R/3R tau mRNA ratios, suggesting a role in modulating tau splicing.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Sporadic tauopathies are associated with tau mRNA splicing alterations.
- The H1/H1 tau genotype is implicated in some tauopathies.
Purpose of the Study:
- To investigate the 4R/3R tau mRNA ratio in frontotemporal lobar degeneration (FTLD).
- To determine the influence of the H1/H1 tau genotype on this ratio.
Main Methods:
- Analysis of the 4R/3R tau mRNA ratio in the frontal cortex of 18 FTLD patients and controls.
- Genotyping for the H1/H1 tau genotype.
Main Results:
- The 4R/3R tau mRNA ratio was comparable between FTLD patients and control groups.
- H1/H1 genotype carriers exhibited a significant elevation in the 4R/3R mRNA ratio.
Conclusions:
- The H1/H1 tau genotype may play a role in modulating tau mRNA splicing.
- This finding suggests a potential genetic influence on tau pathology in FTLD.
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