October 31, 2022 -- An international team of researchers has identified the precise role of key components in the nuclear envelope (NE) repair process, which could potentially lead to a better understanding of various rare genetic disorders such as laminopathies.
Scientists led by a professor at the Tokyo Institute of Technology used a high-power laser to induce NE rupture and demonstrated how a conglomeration of lamin C, barrier-to-autointegration factor (BAF), and cytoplasmic cyclic GMP-AMP synthase (cGAS) facilitated the NE repair in mouse embryonic fibroblasts (Journal of Cell Biology, October 27, 2022).
Using immunofluorescence and live-cell imaging the researchers found a nucleoplasmic pool of lamin C rapidly accumulates at the sites of laser-microirradiation-induced NE rupture in mammalian cells. However, if the lamin C mutations R435C, R471C, R527H, A529V, and K542N are present, NE repair is hindered.
The lamin C mutations are also found in patients with laminopathies and are responsible for causing cardiac and skeletal muscle diseases, dysplasia, and progeroid syndrome, the authors said.
The research demonstrates nuclear BAF and cGAS accumulation is in part dependent on lamin A/C. In other words, all three work in tandem at NE rupture sites to enable rapid repair.
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