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ABSTRACT: Adenine Base Editing Reduces Misfolded Protein Accumulation and Toxicity in Alpha-1 Antitrypsin Deficient Patient iPSC-Hepatocytes

PROVIDER: PRJNA733506 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR14681200.fastq.gz	Fastqsanger.gz
	SRR14681201.fastq.gz	Fastqsanger.gz
	SRR14681202.fastq.gz	Fastqsanger.gz
	SRR14681203.fastq.gz	Fastqsanger.gz
	SRR14681204.fastq.gz	Fastqsanger.gz

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Base Editing Reduces Misfolded Protein Accumulation and Toxicity in Alpha-1 Antitrypsin Deficient Patient iPSC-Hepatocytes

Project description:Base Editing Reduces Misfolded Protein Accumulation and Toxicity in Alpha-1 Antitrypsin Deficient Patient iPSC-Hepatocytes

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Base Editing Reduces Misfolded Protein Accumulation and Toxicity in Alpha-1 Antitrypsin Deficient Patient iPSC-Hepatocytes

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Differential gene expression in ATZ-globule-free and ATZ-globule-containing hepatocytes in PIZ mouse liver

Project description:Alpha-1-antitrypsin deficiency is a disease of the liver and lung where accumulation of misfolded ATZ protein forms large protein aggregates or globules that result in significant cellular stess. From Birth to 2 months of age, virtually every hepatocyte has numerous globules of the mutant ATZ protien. At 2 months of age small colonies of globule free hepatocytes arise and over time the liver becomes largely globule free. this analysis aims to identify differential gene expression profiles in the globule free vs the globule containing cells to idenitfy key factors and pathways regulating clearance of the mutant ATZ protien. We used Laser Capture Microdisection to isolate RNA from ATZ-globule-free hepatocytes and ATZ-globule-containing hepatocytes and subjected them to microarray analysis to detail the differential global gene expression profiles.

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Project description:Individuals homozygous for the "Z" mutation in alpha-1 antitrypsin deficiency are known to be at increased risk for liver disease. It has also become clear that some degree of risk is similarly conferred by the heterozygous state. A lack of model systems that recapitulate heterozygosity in human hepatocytes has limited the ability to study the impact of a single Z alpha-1 antitrypsin (ZAAT) allele on hepatocyte biology. Here, we describe the derivation of syngeneic induced pluripotent stem cells (iPSCs) engineered to determine the effects of ZAAT heterozygosity in iPSC-hepatocytes (iHeps). We find that heterozygous MZ iHeps exhibit an intermediate disease phenotype and share with ZZ iHeps alterations in AAT protein processing and downstream perturbations including altered endoplasmic reticulum (ER) and mitochondrial morphology, reduced mitochondrial respiration, and branch-specific activation of the unfolded protein response in cell subpopulations. Our model of MZ heterozygosity thus provides evidence that a single Z allele is sufficient to disrupt hepatocyte homeostatic function.

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