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390c12ee-8bb4-493d-9092-4675eafe1c78 - samples

ABSTRACT: The dataset includes exome sequencing results for a patient with SSBP1 mutations that cause a complex optic atrophy spectrum disorder

PROVIDER: EGAD00001005475 | EGA |

REPOSITORIES: EGA

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SSBP1

Project description:SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion

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Discovering genetic causes of optic atrophy syndromes through whole exome sequencing

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Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia

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Project description:The nuclear receptor Nr2f1 acts as a strong transcriptional regulator in embryonic and postnatal neural cells. In humans, its mutations cause the Bosch-Boonstra-Schaaf optic atrophy-intellectual syndrome (BBSOAS), a rare neurodevelopmental disorder characterized by multiple clinical features including optic nerve atrophy, intellectual disability, and autistic traits. In this study, by genome-wide and in silico analyses we identified a wide set of nuclear-encoded mitochondrial genes as potential genomic targets under direct Nr2f1 transcriptional control in neurons. By combining mouse genetics, neuroanatomical and imaging approaches we demonstrated that conditional Nr2f1 loss-of-function within the adult mouse hippocampal neurogenic niche results in a reduced mitochondrial mass associated with mitochondrial fragmentation and downregulation of key mitochondrial proteins in newborn neurons, whose functional integration and survival are impaired. Importantly, we also found dysregulation of several mitochondrial genes and downregulation in levels of key mitochondrial proteins in the brain of mice heterozygous for Nr2f1, a validated BBSOAS model. Our data point to an active role of Nr2f1 in the mitochondrial gene expression regulatory network in neurons and support the involvement of mitochondrial dysfunction in BBSOAS pathogenesis.

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Identification of HLA class I immunopeptide from human colon tissue (Tumor)

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