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

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

Department of Epigenetic Medicine, Faculty of Medicine, University of Yamanashi, 1110 Shimokato, Chuo, Yamanashi 409-3898, Japan
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)
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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

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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).

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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.

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