Genetics of primary macronodular adrenal hyperplasia

Fragoso, Maria Candida Barisson Villares; Cavalcante, Isadora Pontes; Ferreira, Amanda Pifano Soares; Mariani, Beatriz Marinho de Paula; Lotfi, Claudimara Ferini Pacicco

doi:10.1016/j.lpm.2018.07.002

Cited by 15 publications

(13 citation statements)

References 105 publications

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“…Additionally, off-target effects may merit pre-evaluation of risk through a homology scan of native, endogenous peptides. Conversely, mutations in nArmRPs (or ArmR-containing proteins) have been linked to a number of diseases, such as Parkinson’s disease [172], neuroblastoma progression [173], and Bilateral macronodular adrenal hyperplasia [174]. Also, designing preselected repeats may have the drawback that significant deviations occur in the ArmRP’s curvature upon changes in environment, such as specific solutions, making it more difficult to design for larger target peptides [171].…”

Section: Alternative Binding Scaffoldsmentioning

confidence: 99%

Toxin Neutralization Using Alternative Binding Proteins

Jenkins

Fryer

Dehli

et al. 2019

Toxins

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Animal toxins present a major threat to human health worldwide, predominantly through snakebite envenomings, which are responsible for over 100,000 deaths each year. To date, the only available treatment against snakebite envenoming is plasma-derived antivenom. However, despite being key to limiting morbidity and mortality among snakebite victims, current antivenoms suffer from several drawbacks, such as immunogenicity and high cost of production. Consequently, avenues for improving envenoming therapy, such as the discovery of toxin-sequestering monoclonal antibodies against medically important target toxins through phage display selection, are being explored. However, alternative binding protein scaffolds that exhibit certain advantages compared to the well-known immunoglobulin G scaffold, including high stability under harsh conditions and low cost of production, may pose as possible low-cost alternatives to antibody-based therapeutics. There is now a plethora of alternative binding protein scaffolds, ranging from antibody derivatives (e.g., nanobodies), through rationally designed derivatives of other human proteins (e.g., DARPins), to derivatives of non-human proteins (e.g., affibodies), all exhibiting different biochemical and pharmacokinetic profiles. Undeniably, the high level of engineerability and potentially low cost of production, associated with many alternative protein scaffolds, present an exciting possibility for the future of snakebite therapeutics and merit thorough investigation. In this review, a comprehensive overview of the different types of binding protein scaffolds is provided together with a discussion on their relevance as potential modalities for use as next-generation antivenoms.

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Section: Alternative Binding Scaffoldsmentioning

confidence: 99%

Toxin Neutralization Using Alternative Binding Proteins

Jenkins

Fryer

Dehli

et al. 2019

Toxins

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“…Bilateral adrenal hyperplasia has two distinct forms, primary macronodular adrenal hyperplasia (PMAH) or micronodular bilateral adrenal hyperplasia (MiBAH). They account for 2% of pituitary-independent Cushing's syndrome and present as bilateral disease in patients with autonomous cortisol secretion [24]. Many inherited causes of hypercortisolism are now known.…”

Section: Micronodular and Macronodular Adrenal Hyperplasiamentioning

confidence: 99%

Inherited Endocrine Neoplasia— A Comprehensive Review from Gland to Gene

Deng

Izatt

2019

Curr Genet Med Rep

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Purpose of the Review There has been a significant expansion in our knowledge of inherited endocrine neoplasia. This review describes syndromic and non-syndromic hereditary endocrine tumours, associated genetic testing, and progress in the management of the disease. Recent Findings Disease-targeted genetic testing for endocrine neoplasia is routinely available, including recently identified endocrine tumour susceptibility genes GPR101, GCM2, DICER1, and ARMC5. The recommendations for surveillance of those at risk of endocrine neoplasia are still evolving, as the evidence base is limited due to the rarity of these diseases. However, in MEN2, pre-emptive thyroidectomy is established surgical practice and may also be considered for other thyroid neoplastic conditions including DICER1 and PTEN. In advanced MTC, targeted medical therapies are now licensed for use. Summary Identifying patients with endocrine neoplasia formerly relied on clinical, biochemical, and radiological assessment. Increasingly, early genetic diagnosis identifies pre-symptomatic patients, enabling personalised medical care by informing ongoing surveillance and therapeutic interventions to improve outcomes.

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“…Макронодулярная двусторонняя гиперплазия надпочечников (МДГН) является редкой причиной АКТГ-независимого гиперкортицизма. Считается, что МДГН составляет менее 2% всех эндогенных причин синдрома Кушинга (СК) и в большинстве случаев является случайной находкой при проведении ультразвукового исследования (УЗИ), магнитно-резонансной томографии (МРТ), мультиспиральной компьютерной томографии (МСКТ) брюшной полости или забрюшинного пространства по причинам, не связанным с проблемами гиперкортицизма/автономной продукции кортизола [1]. МДГН характеризуется двусторонними, заметно увеличенными надпочечниками в результате наличия множественных узлов, размер кото-рых превышает 1 см.…”

Section: Introductionunclassified

“…Несмотря на супрессированный уровень АКТГ сыворотки, избыточная выработка кортизола не всегда является автономной при МДГН; стимуляция стероидогенеза достаточно часто регулируется через связанные с G-белком аберрантные и эутопические рецепторы. К аберрантным относятся рецепторы вазопрессина (V2-V3R), серотонина (5-HT4R), глюкозозависимого инсулинотропного пептида (GIP), катехоламинов (α2А-АR), в свою очередь, рецепторы вазопрессина (V1aR), лютеинизирующего гормона (ЛГ)/ хорионического гонадотропина человека (ХГЧ), катехоламинов (β-АR), серотонина (5-HT7R) и лептина в норме экспрессируются в тканях надпочечников, однако при МДГН отмечается их гиперэкспрессия [1,10].…”

Section: Introductionunclassified

Immunohistochemical study on the expression/hyperexpression of aberrant/eutopic receptors in patients with bilateral macronodular adrenal hyperplasia

Chevais

Selivanova

Kuznetzov

et al. 2020

Probl Endokrinol (Mosk)

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Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing’s syndrome. In this case cortisol production can be regulated by both genetic factors and various molecular mechanisms. The presence of aberrant or overexpression of eutopic receptors on the membrane of adrenal cortex may lead to activation of cAMP/PKA signaling pathways and consequently, pathological stimulation of steroidogenesis. Since proving the effectiveness of unilateral adrenalectomy in BMAH by achievement of stable remission, preoperative clinical and laboratory tests (ligand-induced tests) are no longer of relevant. Nevertheless, in the absence of normalization of the level of cortisol in the postoperative period or its recurrence, subsequent specific targeted medical options can be offered only if expression/hyperexpression predominance of one or another receptor. Their detection becomes possible using more reliable diagnostic methods such as polymerase chain reaction (PCR) and immunohistochemical studies (IHC) than clinical laboratory tests. At the moment, PCR has gained a wider application. This article summarizes data on the use of immunohistochemical study in BMAH.

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Genetics of primary macronodular adrenal hyperplasia

Cited by 15 publications

References 105 publications

Toxin Neutralization Using Alternative Binding Proteins

Toxin Neutralization Using Alternative Binding Proteins

Inherited Endocrine Neoplasia— A Comprehensive Review from Gland to Gene

Immunohistochemical study on the expression/hyperexpression of aberrant/eutopic receptors in patients with bilateral macronodular adrenal hyperplasia

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