Cardiac manifestations of PRKAG2 mutation

Banankhah, P.; Fishbein, Gregory A.; Dota, Anthony; Ardehali, Reza

doi:10.1186/s12881-017-0512-6

Cited by 38 publications

(33 citation statements)

References 16 publications

(20 reference statements)

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“…Expression data showing downregulation of AMPK regulator PRKAG3 could be indicative of altered glycogen storage, with glycogen storage disease and PRKAG2 (isoform of PRKAG3 ) mutation seen in some cases of cardiomyopathy (Porto et al ; Banankhah et al ). To see whether any phenotype of glycogen storage was present, glycogen deposition was analysed by periodic acid‐Schiff stain with diastase (PAS‐D) at HH35 in OFT‐banded and sham hearts ( n = 3 per group).…”

Section: Resultsmentioning

confidence: 99%

Characterisation of the developing heart in a pressure overloaded model utilising RNA sequencing to direct functional analysis

et al. 2019

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Cardiogenesis is influenced by both environmental and genetic factors, with blood flow playing a critical role in cardiac remodelling. Perturbation of any of these factors could lead to abnormal heart development and hence the formation of congenital heart defects. Although abnormal blood flow has been associated with a number of heart defects, the effects of abnormal pressure load on the developing heart gene expression profile have to date not clearly been defined. To determine the heart transcriptional response to haemodynamic alteration during development, outflow tract (OFT) banding was employed in the chick embryo at Hamburger and Hamilton stage (HH) 21. Stereological and expression studies, including the use of global expression analysis by RNA sequencing with an optimised procedure for effective globin depletion, were subsequently performed on HH29 OFT‐banded hearts and compared with sham control hearts, with further targeted expression investigations at HH35. The OFT‐banded hearts were found to have an abnormal morphology with a rounded appearance and left‐sided dilation in comparison with controls. Internal analysis showed they typically had a ventricular septal defect and reductions in the myocardial wall and trabeculae, with an increase in the lumen on the left side of the heart. There was also a significant reduction in apoptosis. The differentially expressed genes were found to be predominately involved in contraction, metabolism, apoptosis and neural development, suggesting a cardioprotective mechanism had been induced. Therefore, altered haemodynamics during development leads to left‐sided dilation and differential expression of genes that may be associated with stress and maintaining cardiac output.

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Section: Resultsmentioning

confidence: 99%

Characterisation of the developing heart in a pressure overloaded model utilising RNA sequencing to direct functional analysis

et al. 2019

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“…Different studies show prevalences of ARMC5 mutations ranging from 19.6% to 55%, mostly sporadic cases [ 3 , 4 , 14 ]. ARMC5 likely functions as a tumor suppressor gene, and somatic mutations have been detected in addition to the germline mutations in patients with PBMAH, supporting the “two-hit” model for ARMC5 as a tumor suppressor gene [ 3 , 15 , 16 ]. The occurrence of intracranial meningiomas has also been associated with PBMAH, suggesting a possible role of ARMC5 for the development of other neoplasia [ 17 ].…”

Section: Introductionmentioning

confidence: 89%

ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report

Ferreira

Pedro

Salazar

et al. 2020

Case Reports in Endocrinology

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Primary bilateral adrenal macronodular hyperplasia is characterized by functioning adrenal macronodules and variable cortisol secretion. Familial clustering suggests a genetic cause that has been confirmed with the identification of some genetic mutations, including inactivating germline mutations, in armadillo repeat containing 5 (ARMC5) gene. The identification of the pathogenic variant enables the physician to identify and treat these patients earlier and more effectively. It has also been noticed that patients with germline causative variants show a different clinical spectrum, presenting specific clinical characteristics, as the association with the presence of meningiomas.

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“…We annotated a significant promoter switch in PRKAG2, a gene linked to hypertrophic cardiomyopathy and critical to heart metabolism. [36][37][38] Three major PRKAG2 promoters were identified, encoding three different isoforms-g2a, g2-3b, and g2b ( Figure 5D).…”

Section: Correlation Of Cage-sequencing and Rna-sequencingmentioning

confidence: 99%

Enhancer and promoter usage in the normal and failed human heart

Am¹,

Dellefave‐Castillo²,

Pgt³

et al. 2020

Preprint

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Word count: 5331 (excluding references and legends)Short title: Promoter and enhancer shifts in heart failure ABSTRACTThe failed heart is characterized by re-expression of a fetal gene program, which contributes to adaptation and maladaptation in heart failure. To define genomewide enhancer and promoter use in heart failure, Cap Analysis of Gene Expression (CAGE-seq) was applied to healthy and failed human left ventricles to define short RNAs associated with both promoters and enhancers. Integration of CAGE-seq data with RNA sequencing identified a combined ~17,000 promoters and ~1,500 enhancers active in healthy and failed human left ventricles. Comparing promoter usage between healthy and failed hearts highlighted promoter shifts which altered amino-terminal protein sequences. Comparing enhancer usage between healthy and failed hearts revealed a majority of differentially utilized heart failure enhancers were intronic and primarily localized within the first intron, identifying this position as a common feature associated with tissue-specific gene expression changes in the heart. This dataset defines the dynamic genomic regulatory landscape underlying heart failure and serves as an important resource for understanding genetic contributions to cardiac dysfunction. Wang from the Northwestern University sequencing core and Yujiro Takegami from DNAFORM for their excellent technical support. AG conducted the analysis and drafted the mansuscript. LDC secured patient consent and genotype information. PP assisted with genotyping. JAW provided access to control samples. DYB and MJP provided helpful advice and commentary and assisted with interpretation. MAN and EMM assisted with analysis, writing and editing the manuscript.

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Cardiac manifestations of PRKAG2 mutation

Cited by 38 publications

References 16 publications

Characterisation of the developing heart in a pressure overloaded model utilising RNA sequencing to direct functional analysis

Characterisation of the developing heart in a pressure overloaded model utilising RNA sequencing to direct functional analysis

ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report

Enhancer and promoter usage in the normal and failed human heart

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