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Foundation Sciences · Genetics

Epigenetics

⏱️ 30 mins read 📖 Genetics 🎯 MLA Relevance: High

Epigenetics describes heritable changes in gene expression without changes in DNA sequence, mediated by DNA methylation, histone modification and non-coding RNAs.

📌 Learning Objectives

  • Describe the underlying mechanism of Epigenetics.
  • Identify the key clinical features and complications of Epigenetics.
  • Outline the appropriate investigations and management of Epigenetics.
  • Discuss the implications for patients and families of Epigenetics.
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Curriculum Mapped
UK MLA Curriculum

📋 Overview

Epigenetic dysregulation contributes to cancer, ageing, and complex diseases. Targeted epigenetic therapies (e.g. azacitidine, decitabine) are used in haematological malignancies.

🔬 Basic Science

Epigenetic dysregulation contributes to cancer, ageing, and complex diseases. Targeted epigenetic therapies (e.g. azacitidine, decitabine) are used in haematological malignancies.

🏥 Clinical Relevance

Imprinting disorders are classic examples of epigenetic disease.

🧪 Investigations

Investigation depends on clinical context: relevant blood tests, imaging, and specific genetic or histopathological tests as appropriate. Refer to specialist services where indicated.

💊 Management

Management is condition-specific and typically multidisciplinary, combining medical therapy, surgical intervention where appropriate, supportive care, and family/genetic counselling.

Revision Resources – expand the sections below for high-yield notes, exam pearls, key facts and further reading.

🎯 MLA High-Yield Notes & Quick Revision ⌄
Common SBA themes: recognising the underlying mechanism, identifying classic clinical features, and choosing the first-line investigation or management step. Watch for inheritance pattern and characteristic associations.
epigenetics methylation histone azacitidine cpg island
  • DNA methylation typically silences gene expression at CpG islands.
  • Histone acetylation generally increases transcription; deacetylation reduces it.
  • Hypermethylation of tumour suppressor promoters silences them in cancer.
  • Azacitidine and decitabine are hypomethylating agents used in MDS/AML.
  • Epigenetic changes can be heritable across cell divisions.
⭐ Exam Pearls ⌄
⭐ High Yield
DNA methylation typically silences gene expression at CpG islands.
Histone acetylation generally increases transcription; deacetylation reduces it.
Hypermethylation of tumour suppressor promoters silences them in cancer.
Azacitidine and decitabine are hypomethylating agents used in MDS/AML.
Epigenetic changes can be heritable across cell divisions.
💡 Clinical Pearl
Epigenetics: Imprinting disorders are classic examples of epigenetic disease.
⚠️ Exam Tip — Common Mistakes
Confusing the mechanism of Epigenetics with related conditions.
Missing classic clinical features of Epigenetics in SBA stems.
Failing to consider Epigenetics in the differential diagnosis.
🔑 Key Facts ⌄
DNA methylation typically silences gene expression at CpG islands.
Histone acetylation generally increases transcription; deacetylation reduces it.
Hypermethylation of tumour suppressor promoters silences them in cancer.
Azacitidine and decitabine are hypomethylating agents used in MDS/AML.
Epigenetic changes can be heritable across cell divisions.
🔗 Related Topics ⌄
📚 Imprinting 📚 Cancer Genetics 📚 Gene Regulation
📚 References ⌄
  1. GMC MLA Content Map
  2. NICE Clinical Knowledge Summaries
  3. BMJ Best Practice

Further Resources

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