ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules

Conceição, Barbara Brito da; Cavalcante, Isadora Pontes; Kremer, Jean Lucas; Auricino, Thais Barabba; Bento, Eduarda Corrêa; Zerbini, Maria Cláudia Nogueira; Fragoso, Maria Candida Barisson Villares; Lotfi, Claudimara Ferini Pacicco

doi:10.20945/2359-3997000000236

Cited by 3 publications

(2 citation statements)

References 20 publications

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“…Recently, Armadillo repeat containing 5 (ARMC5) mutations have been described in familial cases and in sporadic patients with CS [152,153]. Although ARMC5 mutations reduce the steroid secretory capacity of each cell, the overall cortisol secretion is increased due to massive enlargement of the adrenals [154][155][156]. In 2015, the association between ARMC5 and the presence of meningiomas has been described [157].…”

Section: Question 6: Is a Different Management Required For Bilateral Adrenal Incidentaloma?mentioning

confidence: 99%

Frequently asked questions and answers (if any) in patients with adrenal incidentaloma

Ceccato

Barbot

Scaroni

et al. 2021

J Endocrinol Invest

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Purpose Adrenal incidentalomas (AIs) are incidentally discovered adrenal masses, during an imaging study undertaken for other reasons than the suspicion of adrenal disease. Their management is not a minor concern for patients and health-care related costs, since their increasing prevalence in the aging population. The exclusion of malignancy is the first question to attempt, then a careful evaluation of adrenal hormones is suggested. Surgery should be considered in case of overt secretion (primary aldosteronism, adrenal Cushing’s Syndrome or pheochromocytoma), however the management of subclinical secretion is still a matter of debate. Methods The aim of the present narrative review is to offer a practical guidance regarding the management of AI, by providing evidence-based answers to frequently asked questions. Conclusion The clinical experience is of utmost importance: a personalized diagnostic-therapeutic approach, based upon multidisciplinary discussion, is suggested.

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Section: Question 6: Is a Different Management Required For Bilateral Adrenal Incidentaloma?mentioning

confidence: 99%

Frequently asked questions and answers (if any) in patients with adrenal incidentaloma

Ceccato

Barbot

Scaroni

et al. 2021

J Endocrinol Invest

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“…Moreover, the missense mutation in the BTB domain of ARMC5 in more than 25–50% of patients with PBMAH, adrenal cortex tumors, and PA is not able to interact and be degraded by the CUL3/proteasome or to alter the cell cycle ( Zilbermint et al, 2015 ; Berthon and Bertherat, 2020 ; Cavalcante et al, 2020 ), which leads to deregulation of cell cycle progression. In addition, ARMC5 mutations can cause increased PCNA expression, which is also a possible cause of these diseases ( Conceição et al, 2020 ).…”

Section: Functional Interactions Of the Armc Subfamily In Specific Diseasesmentioning

confidence: 99%

ARMC Subfamily: Structures, Functions, Evolutions, Interactions, and Diseases

Huang

Jiang

Gao

et al. 2021

Front. Mol. Biosci.

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Armadillo repeat-containing proteins (ARMCs) are widely distributed in eukaryotes and have important influences on cell adhesion, signal transduction, mitochondrial function regulation, tumorigenesis, and other processes. These proteins share a similar domain consisting of tandem repeats approximately 42 amino acids in length, and this domain constitutes a substantial platform for the binding between ARMCs and other proteins. An ARMC subfamily, including ARMC1∼10, ARMC12, and ARMCX1∼6, has received increasing attention. These proteins may have many terminal regions and play a critical role in various diseases. On the one hand, based on their similar central domain of tandem repeats, this ARMC subfamily may function similarly to other ARMCs. On the other hand, the unique domains on their terminals may cause these proteins to have different functions. Here, we focus on the ARMC subfamily (ARMC1∼10, ARMC12, and ARMCX1∼6), which is relatively conserved in vertebrates and highly conserved in mammals, particularly primates. We review the structures, biological functions, evolutions, interactions, and related diseases of the ARMC subfamily, which involve more than 30 diseases and 40 bypasses, including interactions and relationships between more than 100 proteins and signaling molecules. We look forward to obtaining a clearer understanding of the ARMC subfamily to facilitate further in-depth research and treatment of related diseases.

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Volumetric Modeling of Adrenal Gland Size in Primary Bilateral Macronodular Adrenocortical Hyperplasia

Wurth

Tirosh

Kamilaris

et al. 2020

Journal of the Endocrine Society

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Context Radiological characterization of adrenal size in primary bilateral macronodular adrenocortical hyperplasia (PBMAH) has not been previously investigated. Objective We hypothesized that volumetric modeling of adrenal gland size may correlate with biochemical disease severity in patients with PBMAH. Secondary analysis of patients with concurrent primary aldosteronism (PA) was performed. Design A retrospective cross-sectional analysis of 44 patients with PBMAH was conducted from 2000 to 2019. Setting Tertiary care clinical research center. Patients Patients were diagnosed with PBMAH based upon clinical, genetic, and biochemical characteristics. Intervention Clinical, biochemical, and genetic data were obtained. Computed tomography scans were used to create volumetric models by manually contouring both adrenal glands in each slice using Vitrea Core Fx v6.3 software (Vital Images, Minnetonka, Minnesota). Main Outcome and Measures. 17-hydroxycorticosteroids (17-OHS), ARMC5 genetics, and aldosterone-to-renin ratio (ARR) were retrospectively obtained. Pearson test was used for correlation analysis of biochemical data with adrenal volume. Results A cohort of 44 patients with PBMAH was evaluated, with a mean age (±SD) of 53 ±11.53. Eight patients met the diagnostic criteria for PA, of which 6 (75%) were Black. In the Black cohort, total adrenal volumes positively correlated with midnight cortisol (R=0.76, p=0.028), UFC (R=0.70, p=0.035) and 17-OHS (R=0.87, p=0.0045), with a more pronounced correlation with left adrenal volume alone. 17-OHS concentration positively correlated with total, left, and right adrenal volume in patients harboring pathogenic variants in ARMC5 (R=0.72, p=0.018; R=0.65, p=0.042; and R=0.73, p=0.016, respectively). Conclusions Volumetric modeling of adrenal gland size may associate with biochemical severity in patients with PBMAH, with particular utility in Black patients.

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ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules

Cited by 3 publications

References 20 publications

Frequently asked questions and answers (if any) in patients with adrenal incidentaloma

Frequently asked questions and answers (if any) in patients with adrenal incidentaloma

ARMC Subfamily: Structures, Functions, Evolutions, Interactions, and Diseases

Volumetric Modeling of Adrenal Gland Size in Primary Bilateral Macronodular Adrenocortical Hyperplasia

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