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A case of genetic hypoglycemia in an adult: A Molecular Approach

ABSTRACT: A case of genetic hypoglycemia in an adult: A Molecular Approach

PROVIDER: PRJNA797262 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR17619489.fastq.gz	Fastqsanger.gz
	SRR17619490.fastq.gz	Fastqsanger.gz
	SRR17619491.fastq.gz	Fastqsanger.gz
	SRR17619492.fastq.gz	Fastqsanger.gz
	SRR17619493.fastq.gz	Fastqsanger.gz

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A case of genetic hypoglycemia in an adult: A Molecular Approach

Project description:Context: We present a case of a young adult with GCK mutation who had neonatal hypoglycaemia, re-emerging with hypoglycaemia later in life. Mechanistic insight is gained from detailed clinical, cellular and genomic analysis. Conclusion: This case highlights the variable phenotype of GCK mutations. In depth molecular analyses in the islets has revealed possible mechanisms for nesidioblastosis and insulin hypersecretion.

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A Potential Role of the Unfolded Protein Response in the Impaired Production and Release of Epinephrine in Recurrent Hypoglycemia

Project description:In order to gain further insight into the molecular mechanism(s) mediating the blunted epinephrine responses following recurrent hypoglycemia we utilized global gene expression profiling approach. Our results indicate the association between defective counterregulation (impaired epinephrine release) and the activation of the unfolded protein response as well as increased neuropeptide signaling, altered ion homeostasis and downregulation of proteins involved in Ca2+-dependent exocytosis of secretory vesicles. We compared the entire transcriptomes during recurrent (defective CRR model, 2RH) and acute hypoglycemia (normal CRR group, 2RS) in the adrenal medulla of normal Sprague-Dawley rats.

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MicroRNA-7a overexpression in VMH restores the sympathoadrenal response to hypoglycemia

Project description:It is proposed that the impaired sympathoadrenal response to hypoglycemia induced by recurrent insulin-induced hypoglycemia (RH) is an adaptive phenomenon induced by specific changes in microRNA expression in the ventromedial hypothalamus (VMH). To test this hypothesis, genome-wide microRNAomic profiling of the VMH by RNA-sequencing was performed in control and RH treated rats. Differential expression analysis identified microRNA-7a-5p and microRNA-665 as potential mediators of this phenomenon. To further test this hypothesis, experiments were conducted consisting of targeted lentiviral-mediated overexpression of microRNA-7a-5p and downregulation of microRNA-665 in the VMH. Hyperinsulinemic hypoglycemic clamp experiments demonstrated that targeted overexpression of microRNA-7a-5p (but not downregulation of microRNA-665) in the VMH of RH rats restored the epinephrine response to hypoglycemia. This restored response to hypoglycemia was associated with a restoration of GABAA receptor gene expression. Finally, a direct interaction of microRNA-7a-5p with 3’-UTR of GABAA receptor α1-subunit (Gabra1) gene was demonstrated in a luciferase assay. These findings indicate that 1) the impaired sympathoadrenal response induced by RH is associated with changes in VMH microRNA expression, and 2) microRNA-7a-5p, possibly via direct downregulation of GABA receptor gene expression, may serve as a mediator of the altered sympathoadrenal response to hypoglycemia.

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Gene expression profile at single nuclei level of brain tissues from diabetic mice exposed to acute or recurrent hypoglycemia.

Project description:The brain is an important controller of glucose homeostasis and mediates counterregulatory responses to hypoglycemia. We used single-nuclei transcriptomics to study the mechanisms of defective hypoglycaemia counter-regulation in brain in a model of diabetic mice exposed to acute or recurrent hypoglycemia.

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transcriptional analysis of bulk monocytes isolated from patients post-bariatric surgery undergoing a standardized liquid mixed-meal test intended to provoque postprandial hypoglycemia, upon treatment with either placebo, anakinra or empagliflozin

Project description:Postprandial hypoglycemia is a disabling complication of bariatric surgery. So far, no therapy exists, and the underlying mechanisms remain unclear. Here, we hypothesized that glucose-induced IL-1β leads to an exaggerated insulin response in this condition. Therefore, we conducted a placebo controlled, randomized, double-blind, cross-over study with the SGLT2-inhibitor empagliflozin (Jardiance [10mg]) and the IL-1 receptor antagonist anakinra (Kineret [100mg]). Both drugs reduced postprandial insulin release and prevented hypoglycemia. Moreover, analysis of monocytes taken from this patient population ex-vivo revealed a hyper-reactive inflammatory state in these cells. Our study proposes a role for glucose-induced IL-1β in postprandial hypoglycemia after bariatric surgery and suggests that SGLT2-inhibitors and IL-1 antagonism may improve this condition.

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