The Staerk group's research examined the role of optic atrophy 1 (OPA1), a GTPase at the inner mitochondrial membrane involved in regulating mitochondrial fusion, stability, and energy output. OPA1 is crucial for neural development, and inactivating mutations in OPA1 are linked to human neurological disorders. The group used genetically modified human embryonic and patient-derived induced pluripotent stem cells to reveal that OPA1 haploinsufficiency leads to aberrant nuclear DNA methylation and significantly alters the transcriptional circuitry in neural progenitor cells (NPCs).
The group's data reveals that OPA1 controls nuclear DNA methylation and expression of key transcription factors needed for proper neural cell specification. The findings have now been published in the journal iScience:
Caglayan. S et al., 'Optic Atrophy 1 Controls Human Neuronal Development by Preventing Aberrant Nuclear DNA Methylation' iScience 23 101154 2020.
Read the article in full online on the Cell.com website.