Next Article in Journal
Early Detection for Dengue Using Local Indicator of Spatial Association (LISA) Analysis
Next Article in Special Issue
Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome
Previous Article in Journal
Effect of Dietary Bioactive Compounds on Mitochondrial and Metabolic Flexibility
Previous Article in Special Issue
Zebrafish Models of Prader-Willi Syndrome: Fast Track to Pharmacotherapeutics
Article Menu

Export Article

Open AccessReview
Diseases 2016, 4(1), 15; doi:10.3390/diseases4010015

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

1
Department of Epigenetic Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan
2
Department of Local Produce and Food Sciences, Faculty of Life and Environmental Sciences, University of Yamanashi, 4-4-37, Takeda, Kofu, Yamanashi 400-8510, Japan
*
Author to whom correspondence should be addressed.
Academic Editor: Danny Camfferman
Received: 10 December 2015 / Revised: 4 March 2016 / Accepted: 7 March 2016 / Published: 11 March 2016
(This article belongs to the Special Issue Prader-Willi Syndrome)
View Full-Text   |   Download PDF [1125 KB, uploaded 11 March 2016]   |  

Abstract

Prader-Willi syndrome (PWS) is a congenital neurodevelopmental disorder caused by loss of function of paternally expressed genes on chromosome 15 due to paternal deletion of 15q11–q13, maternal uniparental disomy for chromosome 15, or an imprinting mutation. We previously developed a DNA methylation-based PCR assay to identify each of these three genetic causes of PWS. The assay enables straightforward and rapid diagnosis during infancy and therefore allows early intervention such as nutritional management, physical therapy, or growth hormone treatment to prevent PWS patients from complications such as obesity and type 2 diabetes. It is known that various environmental factors induce epigenomic changes during the perinatal period, which increase the risk of adult diseases such as type 2 diabetes and intellectual disabilities. Therefore, a similar preemptive approach as used in PWS would also be applicable to acquired disorders and would make use of environmentally-introduced “epigenomic signatures” to aid development of early intervention strategies that take advantage of “epigenomic reversibility”. View Full-Text
Keywords: Prader-Willi syndrome; genomic imprinting; epigenetics; epigenomics; diagnosis; intervention; preemptive medicine Prader-Willi syndrome; genomic imprinting; epigenetics; epigenomics; diagnosis; intervention; preemptive medicine
Figures

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Kubota, T.; Miyake, K.; Hariya, N.; Tran Nguyen Quoc, V.; Mochizuki, K. Prader-Willi Syndrome: The Disease that Opened up Epigenomic-Based Preemptive Medicine. Diseases 2016, 4, 15.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Diseases EISSN 2079-9721 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top