Epigenetics of Prader-Willi Syndrome: A good example of translational medicine

Authors

  • Moisés Mercado <p>Instituto Mexicano del Seguro Social, Centro M&eacute;dico Nacional Siglo XXI, Hospital de Especialidades &ldquo;Dr. Bernardo Sep&uacute;lveda Guti&eacute;rrez&rdquo;, Unidad de Investigaci&oacute;n M&eacute;dica en Enfermedades Endocrinas. Ciudad de M&eacute;xico, M&eacute;xico</p> http://orcid.org/0000-0002-4748-9734

Keywords:

In Situ Hybridization, Fluorescence, Karyotype, Prader-Willi Syndrome, Angelman Syndrome, 15q11-q13 Region, MS-MLPA

Abstract

In this editorial the author presents a study, concerning Prader-Willi syndrome, which is paradigmatic for translational medicine, given that it creates a synergy between genetics and molecular biology, in order to improve the care for patients suffering from this syndrome.

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Author Biography

  • Moisés Mercado, <p>Instituto Mexicano del Seguro Social, Centro M&eacute;dico Nacional Siglo XXI, Hospital de Especialidades &ldquo;Dr. Bernardo Sep&uacute;lveda Guti&eacute;rrez&rdquo;, Unidad de Investigaci&oacute;n M&eacute;dica en Enfermedades Endocrinas. Ciudad de M&eacute;xico, M&eacute;xico</p>

    Jefe de la UIM en Enfermedades Endocrinas

References

Rios-Flores IM, Bobadilla-Morales K, Peña-Padilla C, Corona-Rivera A, Acosta-Fernández E, Santana-Hernández J et al. Síndromes Prader-Willi y Angelman: serie de casos diagnosticados mediante la técnica de MS-MLPA. Rev Med Inst Mex Seguro Soc. 2021;59(2):170-8.

 

Prader A, Labhart A, Willi H. Ein syndrome van adipositas, kleinwuchs, kryptorchismus und oligophrenie nach myatomieartigem zustand im nevgeborenenalter. Schweiz Med Wochenschr. 1956;86:1260-1.

 

Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic and endocrine findings. J Endocrinol Invest. 2015;38:1249-63.

 

Perez-Comas A. Angelman’s happy puppet syndrome. Bol Assoc Med PR. 1976;68:257-60.

 

Buttler MG. Imprinting disorders in humans: A review. Curr Opin Pediatr. 2020;32:719-29.

 

Mendiola AJP, La Salle JM. Epigenetics in Prader-Willi syndrome. Front Genet. 2021;16:624581.

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Published

2021-06-14

Issue

Vol. 59 No. 2 (2021): March-April

Section

Editorial

License

Authors retain their copyright and grant the Revista Médica del IMSS the right of first publication. Articles are distributed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which allows sharing as long as the author and the original source are properly credited.