Genetics of primary macronodular adrenal hyperplasia

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art_FRAGOSO_Genetics_of_primary_macronodular_adrenal_hyperplasia_2018.PDF (943.24 KB)
Citações na Scopus
14
Tipo de produção
article
Data de publicação
2018
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
MASSON EDITEUR
Autores
CAVALCANTE, Isadora Pontes
LOTFI, Claudimara Ferini Pacicco
Citação
PRESSE MEDICALE, v.47, n.43319, Special Issue, p.E139-E149, 2018
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Recent advances in molecular genetics investigations of primary macronodular adrenal hyperplasia (PMAH) have been providing new insights for the research on this issue. The cAMP-dependent pathway is physiologically triggered by ACTH and its receptor, MC2-R, in adrenocortical cells. Different mechanisms of this cascade may be altered in some functioning adrenal cortical disorders. Activating somatic mutations of the GNAS gene (known as gsp oncogene) which encodes the stimulatory G protein alpha-subunit (Gs alpha) have been found in a small number of adrenocortical secreting adenomas and rarely in PMAH. Lately, ARMC5 was linked to the cyclic AMP signaling pathway, which could be implicated in all of mechanisms of cortisol-secreting by macronodules adrenal hyperplasia and the molecular defects in: G protein aberrant receptors; MC2R; GNAS; PRKAR1A; PDE11A; PDE8B. Around 50 % of patient's relatives with PMAH and 30 % of apparently sporadic hypercortisolism carried ARMC5 mutations. Therefore, PMAH is genetically determined more frequently than previously believed. This review summarizes the most important molecular mechanisms involved in PMAH.
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URI
https://observatorio.fm.usp.br/handle/OPI/29672
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Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICESP
Artigos e Materiais de Revistas Científicas - LIM/42