DNMT3A Gene

DNMT3A — DNA Methyltransferase 3 Alpha

Introduction

Dnmt3A Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">DNA Methyltransferase 3 Alpha</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>DNMT3A</td></tr>
<tr><td><strong>Full Name</strong></td><td>DNA Methyltransferase 3 Alpha</td></tr>
<tr><td><strong>Chromosome</strong></td><td>2p23</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[1785](https://www.ncbi.nlm.nih.gov/gene/1785)</td></tr>
<tr><td><strong>OMIM</strong></td><td>602950</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000119772</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q9Y6K4](https://www.uniprot.org/uniprot/Q9Y6K4)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>[Alzheimer's Disease](/diseases/alzheimers-disease), [Parkinson's Disease](/diseases/parkinsons-disease), ALS, Tauopathy</td></tr>
</table>
</div>

Overview

DNMT3A (DNA Methyltransferase 3A) is a de novo DNA methyltransferase that establishes new [DNA methylation](/entities/dna-methylation) patterns during development and in adult tissues[@feng2010]. It is crucial for genomic imprinting, X-chromosome inactivation, and silencing of repetitive elements.

DNMT3A — DNA Methyltransferase 3 Alpha

Introduction

Dnmt3A Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">DNA Methyltransferase 3 Alpha</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>DNMT3A</td></tr>
<tr><td><strong>Full Name</strong></td><td>DNA Methyltransferase 3 Alpha</td></tr>
<tr><td><strong>Chromosome</strong></td><td>2p23</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[1785](https://www.ncbi.nlm.nih.gov/gene/1785)</td></tr>
<tr><td><strong>OMIM</strong></td><td>602950</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000119772</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q9Y6K4](https://www.uniprot.org/uniprot/Q9Y6K4)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>[Alzheimer's Disease](/diseases/alzheimers-disease), [Parkinson's Disease](/diseases/parkinsons-disease), ALS, Tauopathy</td></tr>
</table>
</div>

Overview

DNMT3A (DNA Methyltransferase 3A) is a de novo DNA methyltransferase that establishes new [DNA methylation](/entities/dna-methylation) patterns during development and in adult tissues[@feng2010]. It is crucial for genomic imprinting, X-chromosome inactivation, and silencing of repetitive elements.

In the brain, DNMT3A plays important roles in neuronal differentiation, synaptic plasticity, and learning and memory[@liu2021]. Its dysfunction is implicated in neurodevelopmental disorders and neurodegenerative diseases.

Function

DNMT3A encodes DNA methyltransferase 3 alpha, a de novo DNA methyltransferase that establishes new DNA methylation patterns during development and in adult tissues. DNMT3A is crucial for epigenetic regulation of gene expression in [neurons](/entities/neurons) and is involved in synaptic plasticity, memory formation, and genomic imprinting.

Expression

High expression in brain, particularly in [hippocampus](/brain-regions/hippocampus), [cortex](/brain-regions/cortex), and cerebellum. Expressed in neurons during development and in adulthood.

Disease Associations

| Disease | Mechanism | References |
|---------|-----------|------------|
| Alzheimer's Disease | DNMT3A deficiency leads to memory impairment | [@feng2010] |
| Parkinson's Disease | Altered DNA methylation in PD brains | [@liu2021] |
| ALS | DNMT3A mutations cause early-onset ALS | [@takase2020] |
| Tauopathy | DNMT3A regulates [tau](/proteins/tau) pathology | [@lu2013] |

Therapeutic Potential

DNMT3A modulators are being explored for:

• Epigenetic therapy
• Memory enhancement
• Neuroprotection

Background

The study of Dnmt3A Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.

Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.

Molecular Mechanisms

DNMT3A (DNA Methyltransferase 3A) is a de novo DNA methyltransferase that establishes DNA methylation patterns during development and cellular differentiation. Unlike DNMT1 (maintenance methyltransferase), DNMT3A establishes new methylation marks on unmethylated DNA.

DNMT3A functions in the brain to regulate gene expression during neurodevelopment, neural stem cell differentiation, and neuronal plasticity. It works with DNMT3B and DNMT3L to establish tissue-specific methylation patterns.

Disease Associations

Alzheimer's Disease: DNMT3A expression and activity are altered in AD brains. DNA methylation changes are observed in AD-related genes, including those involved in amyloid processing, tau phosphorylation, and synaptic function. These changes may contribute to disease progression.

Parkinson's Disease: DNMT3A regulates genes involved in dopaminergic neuron survival and function. Methylation changes are observed in PD brains.

Huntington's Disease: DNMT3A contributes to transcriptional dysregulation in HD. The mutant huntingtin protein interacts with DNMT3A, altering its function.

Rett Syndrome: DNMT3A mutations cause a Rett-like syndrome, highlighting its critical role in neurodevelopment.

Therapeutic Implications

DNMT inhibitors (e.g., 5-azacytidine, decitabine) are being explored for neurodegenerative diseases. These compounds can reverse aberrant DNA methylation patterns and restore gene expression.

Research Directions

Understanding the specific gene targets of DNMT3A in different neurodegenerative contexts is a priority. Developing brain-penetrant DNMT inhibitors with improved specificity is ongoing.

Epigenetic Regulation in Neurodegeneration

The field of epigenetics has emerged as a key area in understanding neurodegenerative diseases. DNA methylation patterns are dynamically regulated in the brain, and alterations in these patterns are increasingly recognized as contributors to disease pathogenesis.

Animal Models

Transgenic mouse models lacking DNMT3A in neural progenitor cells show altered brain development and behavior. These models are used to study the role of DNA methylation in neurodegeneration.

Biomarker Potential

DNA methylation marks in peripheral tissues (blood, CSF) are being investigated as potential biomarkers for neurodegenerative disease diagnosis and progression.

Clinical Trials

Several clinical trials are exploring epigenetic therapies, including HDAC inhibitors and DNMT inhibitors, for neurodegenerative diseases. Early-phase trials have shown some promise.

See Also

• [DNMT3A Protein](/proteins/dnmt3a-protein)
• DNMT1 Gene
• DNMT3B Gene
• [DNA Methylation](/entities/dna-methylation)
• Epigenetics in [Neurodegeneration](/diseases/neurodegeneration)
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Huntington's Disease](/diseases/huntingtons-disease)
• Taybi-Linder Syndrome

External Links

• [NCBI Gene: DNMT3A](https://www.ncbi.nlm.nih.gov/gene/1785)
• [UniProt: DNMT3A](https://www.uniprot.org/uniprot/Q9Y6K4)
• [Ensembl: DNMT3A](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119772)
• [GeneCards: DNMT3A](https://www.genecards.org/cgi-bin/carddisp.pl?gene=DNMT3A)

References

Pathway Context

Pathway Diagram

The following diagram shows the key molecular relationships involving DNMT3A Gene discovered through SciDEX knowledge graph analysis: