Regulation of human MAPT gene expression

Area of Science:

• Neuroscience
• Genetics
• Molecular Biology

Background:

• Tau protein deregulation is implicated in over 30 tauopathies and increasingly in other conditions like cancer and myositis.
• This suggests Tau's potential role extends beyond the brain to peripheral tissues.
• Deregulation can manifest as abnormal Tau aggregation, expression changes, or altered splicing.

Purpose of the Study:

• To review current knowledge on the regulation of human MAPT gene expression.
• To elucidate mechanisms of MAPT gene deregulation at both DNA and RNA levels.
• To enhance understanding of Tau's involvement in diverse pathologies.

Main Methods:

• Review of existing literature on MAPT gene regulation.
• Analysis of DNA-level regulatory aspects: repeated motifs, CpG islands, methylation, and haplotypes.
• Examination of RNA-level regulatory aspects: mRNA expression, stability, and alternative splicing.

Main Results:

• MAPT gene regulation involves complex DNA elements like repeated motifs and methylation patterns.
• RNA processing, including splicing and stability, significantly impacts Tau expression.
• Aberrant regulation at these levels contributes to various diseases.

Conclusions:

• Understanding MAPT gene regulation at DNA and RNA levels is crucial for comprehending its role in tauopathies and other pathologies.
• Further research into these regulatory mechanisms may reveal novel therapeutic targets.
• Tau's multifaceted involvement highlights the need for a comprehensive view of its biological functions.