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Mechanisms Underlying Dilated Cardiomyopathy Associated with FKBP12 Deficiency

ABSTRACT: Mechanisms Underlying Dilated Cardiomyopathy Associated with FKBP12 Deficiency

PROVIDER: PRJNA1090426 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR28408665_1.fastq.gz	Fastqsanger.gz
	SRR28408665_2.fastq.gz	Fastqsanger.gz
	SRR28408666_1.fastq.gz	Fastqsanger.gz
	SRR28408666_2.fastq.gz	Fastqsanger.gz
	SRR28408667_1.fastq.gz	Fastqsanger.gz

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Mechanisms Underlying Dilated Cardiomyopathy Associated with FKBP12 Deficiency

Project description:To define the role of the immunophilin FKBP12 in cardiac function, two conditional models of FKBP12 deficiency were created using Fkbp1a floxed (FL) mice expressing Cre+ recombinase under the control of different promoters (α-myosin heavy chain, αMHC, and muscle creatine kinase, MCK) that differ in both developmental stage of expression (E9 versus E 13) and Cre+ expression levels. In adult mice FKBP12 was reduced by 96% and 86% in αMHC-Cre+- and MCK-Cre+-FKBP12 deficient mice, respectively, compared to FL mice. FL mice and mice hemizygous for the αMHC Cre+ recombinase only (to assess potential cytotoxic effects of the Cre+ recombinase) were used as controls. Of these four strains of mice, only the αMHC-Cre+-FKBP12 deficient mice developed an early-onset dilated cardiomyopathy (DCM) and displayed both increased cardiomyocyte sarcoplasmic reticulum Ca2+ leak and large elevations (assessed with RNAseq and western blots) in Ankyrin repeat domain 1 protein (ANKRD1), a negative regulator of cardiac gene expression in response to stress. These data suggest that an FKBP12 deficiency that begins during cardiac development and reduces FKBP12 below a critical level causes RyR2 mediated Ca2+ leak and ANKRD1 elevation, leading to cardiac structural remodeling and the development of DCM. This Ca2+ leak/ANKRD1 pathway may represent a common and targetable mechanism for DCM.

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