Imprinting disorders
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Imprinting disorders (ImpDis) are congenital conditions that are characterized by disturbances of genomic imprinting. The most common individual ImpDis are Prader–Willi syndrome, Angelman syndrome and Beckwith–Wiedemann syndrome. Individual ImpDis have similar clinical features, such as growth disturbances and developmental delay, but the disorders are heterogeneous and the key clinical manifestations are often non-specific, rendering diagnosis difficult. Four types of genomic and imprinting defect (ImpDef) affecting differentially methylated regions (DMRs) can cause ImpDis. These defects affect the monoallelic and parent-of-origin-specific expression of imprinted genes. The regulation within DMRs as well as their functional consequences are mainly unknown, but functional cross-talk between imprinted genes and functional pathways has been identified, giving insight into the pathophysiology of ImpDefs. Treatment of ImpDis is symptomatic. Targeted therapies are lacking owing to the rarity of these disorders; however, personalized treatments are in development. Understanding the underlying mechanisms of ImpDis, and improving diagnosis and treatment of these disorders, requires a multidisciplinary approach with input from patient representatives.
| Originalsprog | Engelsk |
|---|---|
| Artikelnummer | 33 |
| Tidsskrift | Nature Reviews Disease Primers |
| Vol/bind | 9 |
| Antal sider | 19 |
| ISSN | 2056-676X |
| DOI | |
| Status | Udgivet - 2023 |
Bibliografisk note
Funding Information:
The authors thank the patients and their families for the support of their research activity. The authors are supported by the following grants: Deutsche Forschungsgemeinschaft to T.E. (EG 115/13-1). Instituto de Salud Carlos III (ISCIIII) of the Ministry of Economy and Competitiveness (Spain) cofinanced by European Regional Development Fund (PI20/00950) and the Department of Health of the Basque Government (GV2021/111056) to G.P.d.N. J.M.K. is supported by a Damon Runyon Clinical Investigator Award supported by the Damon Runyon Cancer Research Foundation (105-19), Alex’s Lemonade Stand Foundation and the Lorenzo “Turtle” Sartini Jr Endowed Chair in Beckwith–Wiedemann Syndrome Research. A.R. is supported by Associazione Italiana per la Ricerca sul Cancro — AIRC IG 2020N. 24405. E.R.M. thanks the NIHR Cambridge Biomedical Research Centre (NIHR203312) and RoseTrees Trust for research support. The University of Cambridge has received salary support for E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. The views expressed are those of the authors and not necessarily those of the NHS or Department of Health. M.K. is funded by the Japan Agency for Medical Research and Development (AMED) (20ek0109373h0003, 22ek0109587).
Publisher Copyright:
© 2023, Springer Nature Limited.
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