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Prader-Willi Syndrome: The Disease that Opened up Epigenomic-Based Preemptive Medicine

Takeo Kubota1, Kunio Miyake2, Natsuyo Hariya3

  • 1Department of Epigenetic Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan. takeokubota27@gmail.com.

Diseases (Basel, Switzerland)
|September 22, 2017
PubMed

Insights

Prader-Willi syndrome (PWS) diagnosis is simplified with a DNA methylation assay, enabling early intervention. This approach may also help identify and treat environmentally-induced epigenomic changes linked to adult diseases.

Area of Science:

  • Genetics
  • Developmental Biology
  • Epigenetics

Background:

  • Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder.
  • It arises from genetic alterations on chromosome 15, affecting paternally expressed genes.
  • Early diagnosis and intervention are crucial for managing PWS complications like obesity and type 2 diabetes.

Purpose of the Study:

  • To present a DNA methylation-based PCR assay for diagnosing the genetic causes of PWS.
  • To highlight the potential of epigenomic analysis for early intervention in acquired disorders.

Main Methods:

  • Development of a DNA methylation-based PCR assay.
  • Identification of three distinct genetic causes of PWS (paternal deletion, maternal uniparental disomy, imprinting mutation).

Main Results:

  • The assay provides rapid and straightforward diagnosis of PWS in infants.
  • This facilitates timely interventions, including nutritional management, physical therapy, and growth hormone treatment.
  • The study proposes extending this epigenomic approach to acquired disorders.

Conclusions:

  • The developed assay is effective for early PWS diagnosis and management.
  • Epigenomic signatures induced by environmental factors may serve as targets for early intervention in acquired diseases.
  • The concept of 'epigenomic reversibility' offers a promising avenue for preventative medicine.

Keywords:
Prader-Willi syndromediagnosisepigeneticsepigenomicsgenomic imprintinginterventionpreemptive medicine

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