دورية أكاديمية
أعرض في EDS

Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?

التفاصيل البيبلوغرافية
العنوان: Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?
المؤلفون: Gardner OFW; Developmental Biology and Cancer Department, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Bai T; Developmental Biology and Cancer Department, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Baillie GS; School of Cardiovascular & Metabolic Health, University of Glasgow, Glasgow G12 8QQ, UK., Ferretti P; Developmental Biology and Cancer Department, University College London Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.
المصدر: Brain communications [Brain Commun] 2024 Jun 29; Vol. 6 (4), pp. fcae225. Date of Electronic Publication: 2024 Jun 29 (Print Publication: 2024).
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [Oxford] : Oxford University Press, [2019]-
مستخلص: Members of the phosphodiesterase 4 (PDE4) enzyme family regulate the availability of the secondary messenger cyclic adenosine monophosphate (cAMP) and, by doing so, control cellular processes in health and disease. In particular, PDE4D has been associated with Alzheimer's disease and the intellectual disability seen in fragile X syndrome. Furthermore, single point mutations in critical PDE4D regions cause acrodysostosis type 2(ACRDYS2, also referred to as inactivating PTH/PTHrP signalling disorder 5 or iPPSD5), where intellectual disability is seen in ∼90% of patients alongside the skeletal dysmorphologies that are characteristic of acrodysostosis type 1 (ACRDYS1/iPPSD4) and ACRDYS2. Two contrasting mechanisms have been proposed to explain how mutations in PDE4D cause iPPSD5. The first mechanism, the 'over-activation hypothesis', suggests that cAMP/PKA (cyclic adenosine monophosphate/protein kinase A) signalling is reduced by the overactivity of mutant PDE4D, whilst the second, the 'over-compensation hypothesis' suggests that mutations reduce PDE4D activity. That reduction in activity is proposed to cause an increase in cellular cAMP, triggering the overexpression of other PDE isoforms. The resulting over-compensation then reduces cellular cAMP and the levels of cAMP/PKA signalling. However, neither of these proposed mechanisms accounts for the fine control of PDE activation and localization, which are likely to play a role in the development of iPPSD5. This review will draw together our understanding of the role of PDE4D in iPPSD5 and present a novel perspective on possible mechanisms of disease.
Competing Interests: The authors report no competing interests.
(© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)
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فهرسة مساهمة: Keywords: PDE4D; acrodysostosis; cAMP; protein kinase A
تواريخ الأحداث: Date Created: 20240710 Latest Revision: 20240711
رمز التحديث: 20240711
مُعرف محوري في PubMed: PMC11232698
DOI: 10.1093/braincomms/fcae225
PMID: 38983619
قاعدة البيانات: MEDLINE
الوصف
تدمد:2632-1297
DOI:10.1093/braincomms/fcae225