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Transcriptome analysis of a protein-truncating mutation in sortilin-related receptor 1 (sorl1) associated with early-onset familial Alzheimer's disease indicates effects on mitochondrial and ribosome function in young-adult zebrafish brains

ABSTRACT: Transcriptome analysis of a protein-truncating mutation in sortilin-related receptor 1 (sorl1) associated with early-onset familial Alzheimer's disease indicates effects on mitochondrial and ribosome function in young-adult zebrafish brains

PROVIDER: PRJNA656952 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR12446284_1.fastq.gz	Fastqsanger.gz
	SRR12446284_2.fastq.gz	Fastqsanger.gz
	SRR12446285_1.fastq.gz	Fastqsanger.gz
	SRR12446285_2.fastq.gz	Fastqsanger.gz
	SRR12446286_1.fastq.gz	Fastqsanger.gz

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Transcriptome analysis of a protein-truncating mutation in sortilin-related receptor 1 (sorl1) associated with early-onset familial Alzheimer's disease indicates effects on mitochondrial and ribosome function in young-adult zebrafish brains

Project description:The early cellular stresses which eventually lead to Alzheimer’s disease (AD) remain poorly understood. This is because we cannot access living, asymptomatic human AD brains for detailed molecular analyses. Sortilin-related receptor 1 (SORL1) encodes a multi-domain receptor protein genetically associated with both rare, early-onset familial AD (EOfAD) and common, sporadic late-onset AD (LOAD). SORL1 has been shown to play a role in the trafficking of the amyloid β A4 precursor protein (APP) which is cleaved proteolytically to form one of the pathological hallmarks of AD, amyloid β (Aβ) peptide. However, the other functions of SORL1 are less well understood. Here, we employed a reverse genetics approach to characterise the effect of an EOfAD mutation in SORL1 using zebrafish as a model organism. We performed targeted mutagenesis to generate an EOfAD-like mutation in the zebrafish orthologue of SORL1, and performed RNA-sequencing on mRNA isolated from a family of fish either heterozygous for the EOfAD-like mutation or their wild type siblings and identified subtle effects on the expression of genes likely indicating changes in mitochondrial and ribosomal function.

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