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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Genetics of primary macronodular adrenal hyperplasia

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Autor(es):
Barisson Villares Fragoso, Maria Candida [1] ; Cavalcante, Isadora Pontes [1, 2] ; Ferreira, Amanda Meneses [1] ; de Paula Mariani, Beatriz Marinho [1] ; Pacicco Lotfi, Claudimara Ferini [2]
Número total de Autores: 5
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Adrenal Unit, Serv Endocrinol & Metab, BR-03178200 Sao Paulo - Brazil
[2] Univ Sao Paulo, Inst Biomed Sci, Dept Anat, BR-03178200 Sao Paulo - Brazil
Número total de Afiliações: 2
Tipo de documento: Artigo de Revisão
Fonte: PRESSE MEDICALE; v. 47, n. 7-8, 2, SI, p. E139-E149, JUL-AUG 2018.
Citações Web of Science: 3
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. (AU)

Processo FAPESP: 15/50192-9 - Avanços na compreensão da fisiopatologia da hiperplasia macronodular adrenocortical primária - PMAH (GP-PMAH)
Beneficiário:Maria Candida Barisson Villares Fragoso
Linha de fomento: Auxílio à Pesquisa - Temático