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NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome. | LitMetric

AI Article Synopsis

  • The nuclear receptor NR2F1 is crucial for regulating gene expression in neural cells, and mutations in its gene lead to Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), affecting vision and cognitive function.
  • Research identified specific mitochondrial genes that are directly controlled by NR2F1 in neurons.
  • In experiments with mice, loss of NR2F1 function led to mitochondrial issues in newborn neurons, suggesting that mitochondrial dysfunction plays a role in the development of BBSOAS.

Article Abstract

The nuclear receptor NR2F1 acts as a strong transcriptional regulator in embryonic and postnatal neural cells. In humans, mutations in the NR2F1 gene cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a rare neurodevelopmental disorder characterized by multiple clinical features including vision impairment, intellectual disability and autistic traits. In this study, we identified, by genome-wide and in silico analyses, a set of nuclear-encoded mitochondrial genes as potential genomic targets under direct NR2F1 transcriptional control in neurons. By combining mouse genetic, 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, the genesis, survival and functional integration of which are impaired. Importantly, we also found dysregulation of several nuclear-encoded mitochondrial genes and downregulation of key mitochondrial proteins in the brain of Nr2f1-heterozygous mice, a validated BBSOAS model. Our data point to an active role for NR2F1 in the mitochondrial gene expression regulatory network in neurons and support the involvement of mitochondrial dysfunction in BBSOAS pathogenesis.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10309583PMC
http://dx.doi.org/10.1242/dmm.049854DOI Listing

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