Functional genomics and small molecules in mitochondrial neurodevelopmental disorders.

ABSTRACT: Mitochondria are critical for brain development and homeostasis. Therefore, pathogenic variation in the mitochondrial or nuclear genome which disrupts mitochondrial function frequently results in developmental disorders and neurodegeneration at the organismal level. Large-scale application of genome-wide technologies to individuals with mitochondrial diseases has dramatically accelerated identification of mitochondrial disease-gene associations in humans. Multi-omic and high-throughput studies involving transcriptomics, proteomics, metabolomics, and saturation genome editing are providing deeper insights into the functional consequence of mitochondrial genomic variation. Integration of deep phenotypic and genomic data through allelic series continues to uncover novel mitochondrial function

SUBMITTER: Calame DG 

PROVIDER: S-EPMC10903096 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature