| Grant number: | 15/50192-9 |
| Support Opportunities: | Research Projects - Thematic Grants |
| Start date: | February 01, 2016 |
| End date: | September 30, 2019 |
| Field of knowledge: | Health Sciences - Medicine |
| Agreement: | ANR |
| Principal Investigator: | Maria Candida Barisson Villares Fragoso |
| Grantee: | Maria Candida Barisson Villares Fragoso |
| Principal researcher abroad: | Jerome Yves Bertherat |
| Institution abroad: | Université Paris Descartes - Paris 5 , France |
| Host Institution: | Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil |
| City of the host institution: | São Paulo |
| Principal investigators | Claudimara Ferini Pacicco Lotfi ; Mirian Yumie Nishi |
| Associated scholarship(s): | 17/11495-1 - Primary Macronodular Adrenocortical Hyperplasia: morphological, immunohistochemical study and its correlation with genetic-molecular alterations,
BP.DD 15/06146-2 - The frequency of ARMC5 Mutation in incidental nodules in the adrenal gland associated with subclinical hypercortisolism, BP.DR |
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)
| Articles published in Agência FAPESP Newsletter about the research grant: |
| More itemsLess items |
| TITULO |
| Articles published in other media outlets ( ): |
| More itemsLess items |
| VEICULO: TITULO (DATA) |
| VEICULO: TITULO (DATA) |