Key result
Loss of Nnt in C57BL/6J mice was associated with enrichment of oxidative phosphorylation genes in the heart and adrenal, though differential gene expression was mainly driven by mouse background.
Why the study?
Studies link NNT dysfunction to cardiomyopathies and atherosclerosis, but human biallelic mutations commonly cause adrenal insufficiency with rare cardiac dysfunction.
Population
Three mouse models: C57BL/6N, C57BL/6J, and wild-type NNT on C57BL/6J background
Comparison
C57BL/6J vs C57BL/6N vs wild-type NNT sequence on C57BL/6J background
Design
Preclinical comparative transcriptomic study
Authors
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Hypothesis-generating for Nnt in cardiac metabolism; genetic background effects limit generalizability beyond this mouse model.
Loss of Nnt in C57BL/6J mice increases expression of oxidative phosphorylation complexes in the heart, but overall transcriptomic differences are largely driven by genetic background.
Williams et al. (2021) studied Loss of Nnt. Loss of Nnt (C57BL/6J background) vs. C57BL/6N and wild-type NNT on C57BL/6J background was evaluated on Transcriptome differences (enrichment of oxidative phosphorylation genes). Loss of Nnt in C57BL/6J mice was associated with enrichment of oxidative phosphorylation genes in the heart and adrenal, though differential gene expression was mainly driven by mouse background.
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