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Advances in the understanding of the pathophysiology of primary adrenocortical hyperplasia macronodular - PMAH (GP-PMAH)

Abstract

Cushing syndrome (CS) results from chronic excess of cortisol production and represents and archetype of metabolic syndrome (MS). The MS is a condition defined as a complex of interconnected cardiovascular risk factors such as (obesity, diabetes, blood hypertension and dyslipidemia). It is estimated that 2/3 of CS patients fulfill the criteria for MS. PMAH is a cause of CS, usually diagnosed in 5th or 6th decades. The duration of exposure of cortisol excess and affinity to its receptor are determinant of cardiovascular risk. The mortality is higher among patients who have not received effective treatment for hypercortisolism than the patients who are cured thus there is a clinical imperative for early diagnosis and treatment. Last year the group from Prof. Jérôme Bertherat (France) and the group from Prof. Maria CBV Fragoso (Brazil), using different molecular approaches identified the gene related to PMAH, the ARMC5 (armadillo repeat containing 5). Germline mutations of ARMC5 were identified around 55% if familial cases and in 21% of sporadic cases. The unique functional study of ARMC5 was conducted by the France group in cell culture of adrenal cancer (NCI). The authors observed the apoptotic effect of the wide type of ARMC5. Our group have stored a bank of hyperplastic adrenal tissue (in liquid nitrogen – 180C) and their cell cultures respectively from patients with PMAH. This is opportunity to develop a collaborative study to characterize the culture cells of PMAH and perform new functional studies in these cells with and without ARMC5 mutations. (AU)

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Scientific publications (6)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
TANNO, FABIO YOSHIAKI; SROUGI, VICTOR; ALMEIDA, MADSON Q.; YAMAUCHI, FERNANDO IDE; ALMEIDA COELHO, FERNANDO MORBECK; NISHI, MIRIAN YUMIE; NOGUEIRA ZERBINI, MARIA CLAUDIA; CORREA SOARES, IRACY SILVIA; ALBERGARIA PEREIRA, MARIA ADELAIDE; SILVA CHARCHAR, HELAINE LAIZ; et al. A New Insight into the Surgical Treatment of Primary Macronodular Adrenal Hyperplasia. JOURNAL OF THE ENDOCRINE SOCIETY, v. 4, n. 8, . (15/50192-9)
BARISSON VILLARES FRAGOSO, MARIA CANDIDA; CAVALCANTE, ISADORA PONTES; FERREIRA, AMANDA MENESES; DE PAULA MARIANI, BEATRIZ MARINHO; PACICCO LOTFI, CLAUDIMARA FERINI. Genetics of primary macronodular adrenal hyperplasia. PRESSE MEDICALE, v. 47, n. 7-8, 2, SI, p. E139-E149, . (15/50192-9)
BARBARA BRITO DA CONCEIÇÃO; ISADORA PONTES CAVALCANTE; JEAN LUCAS KREMER; THAIS BARABBA AURICINO; EDUARDA CORRÊA BENTO; MARIA CLAUDIA NOGUEIRA ZERBINI; MARIA CANDIDA BARISSON VILLARES FRAGOSO; CLAUDIMARA FERINI PACICCO LOTFI. ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 64, n. 4, p. 390-401, . (15/50192-9, 15/14199-9)
MARIANI, BEATRIZ MARINHO DE PAULA; NISHI, MIRIAN YUMIE; WANICHI, INGRID QUEVEDO; BRONDANI, VANIA BALDERRAMA; LACOMBE, AMANDA MENESES FERREIRA; CHARCHAR, HELAINE; PEREIRA, MARIA ADELAIDE ALBERGARIA; SROUGI, VICTOR; TANNO, FABIO YOSHIAKI; CECCATO, FILIPPO; et al. Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules. FRONTIERS IN ENDOCRINOLOGY, v. 11, . (15/06146-2, 15/50192-9)
CAVALCANTE, ISADORA PONTES; VACZLAVIK, ANNA; DROUGAT, LUDIVINE; PACICCO LOTFI, CLAUDIMARA FERINI; HECALE-PERLEMOINE, KARINE; RIBES, CHRISTOPHER; RIZK-RABIN, MARTHE; CLAUSER, ERIC; BARISSON VILLARES FRAGOSO, MARIA CANDIDA; BERTHERAT, JEROME; et al. CuIlin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation. Endocrine-Related Cancer, v. 27, n. 4, p. 221-230, . (15/50192-9)
CAVALCANTE, ISADORA P.; NISHI, MIRIAN; ZERBINI, MARIA CLAUDIA N.; ALMEIDA, MADSON Q.; BRONDANI, VANIA B.; ANHAIA DE ARRUDA BOTELHO, MARIA LUIZA; TANNO, FABIO Y.; SROUGI, VICTOR; CHAMBO, JOSE LUIS; MENDONCA, BERENICE B.; et al. The role of ARMC5 in human cell cultures from nodules of primary macronodular adrenocortical hyperplasia (PMAH). Molecular and Cellular Endocrinology, v. 460, n. C, p. 36-46, . (15/50192-9)

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