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Changes to energy metabolism, and signal transduction (i.e. Notch and Wnt signalling) define the brain transcriptomic differences between mutations causative for early-onset familial Alzheimer’s disease or familial acne inversa in PRESENILIN 1

ABSTRACT: Changes to energy metabolism, and signal transduction (i.e. Notch and Wnt signalling) define the brain transcriptomic differences between mutations causative for early-onset familial Alzheimer’s disease or familial acne inversa in PRESENILIN 1

PROVIDER: PRJNA690794 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR13388639_1.fastq.gz	Fastqsanger.gz
	SRR13388639_2.fastq.gz	Fastqsanger.gz
	SRR13388640_1.fastq.gz	Fastqsanger.gz
	SRR13388640_2.fastq.gz	Fastqsanger.gz
	SRR13388641_1.fastq.gz	Fastqsanger.gz

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Changes to energy metabolism, and signal transduction (i.e. Notch and Wnt signalling) define the brain transcriptomic differences between mutations causative for early-onset familial Alzheimer’s disease or familial acne inversa in PRESENILIN 1

Project description:Background: Mutations in PRESENILIN 1 (PSEN1) which still produce a transcript encoding a full-length, but mutant protein are the most common cause of early-onset familial Alzheimer’s disease (EOfAD). The only frameshift mutations found in PSEN1 causes familial acne inversa (fAI) without EOfAD. The molecular consequences of heterozygosity for these mutations, and how they lead to completely different diseases, remains largely unexplored. Objective: To identify the similarities and differences of the effects of heterozygosity for mutations in psen1 causing EOfAD (T428del) or fAI (W233fs) on the brain transcriptome of young adult zebrafish. Methods: RNA sequencing was performed with high read depth on mRNA isolated from the brains of young adult (6 month old) zebrafish arising from a single family which contained either a single, heterozygous EOfAD-like or fAI-like mutation in the endogenous psen1 gene, and their wild type siblings. Results: Both mutations appeared to downregulate genes encoding the ribosomal subunits, and upregulated genes involved in inflammation. Genes involved in energy metabolism appeared to only be affected in EOfAD-like mutants, while genes involved in Notch, Wnt and neutrophin signalling pathways were only significantly altered by the fAI-like mutation. Further investigation of direct transcriptional targets of Notch revealed an apparent increase in Notch signalling. Conclusion: We observed both common, and distinct effects on transcriptomes of the heterozygous mutants compared to their wild type siblings. The distinct effects observed may shed light to how these mutations give rise to completely different diseases.

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Project description:To prevent or ameliorate Alzheimer’s disease (AD) requires that we understand its molecular basis. AD develops over decades but detailed molecular analysis of AD brains is limited to postmortem tissue where the stresses initiating the disease may be obscured by compensatory responses and neurodegenerative processes. Rare, dominant mutations in a small number of genes drive early onset of familial AD (EOfAD). Numerous transgenic models of AD have been constructed in mouse and other organisms based on these mutant genes, but transcriptomic analysis of these models has raised serious doubts regarding their representation of the disease state. Objective: In the absence of an understanding of the molecular mechanism(s) underlying AD, we posit that the most valid approach is to model the human genetic state as closely as possible – i.e. to analyse single, heterozygous EOfAD-like mutations of endogenous genes in intact brains. We used genome editing to introduce an EOfAD-like mutation (Q96_K97del) into the endogenous presenilin 1 (psen1) gene of zebrafish. We analysed transcriptomes of young adult (6-month-old) entire brains from a family of heterozygous mutant and wild type sibling fish. Gene ontology (GO) analysis revealed effects on mitochondria, particularly ATP synthesis, and on ATP-dependent processes including vacuolar acidification.

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