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Genetics

New link between nuclear pore genes and SRNS

Nature Reviews Nephrology volume 12, page 195 (2016)Cite this article

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A recent study has identified specific mutations in nuclear pore genes that can cause steroid-resistant nephrotic syndrome (SRNS). The new data — recently published in Nature Genetics — suggest a novel link between nuclear pore complex (NPC)-associated proteins and SRNS via the BMP-7-dependent SMAD signalling pathway.

Follow-up sequence analysis of siblings from one affected family identified a homozygous missense mutation in another nucleoporin gene NUP205 (p.Phe1995Ser); a mutation in the nuclear export gene XPO5 (p.Val552Ile) was also detected. NUP93, NUP205, and XPO5 interact to form part of the NPC, which is essential for nuclear-cytoplasmic protein shuttling. The researchers say that mutations in such a critical cellular component would be expected to be lethal, but in these cases, mutations in nuclear pore proteins were causative of kidney disease and thus could be classified as “functionally relatively mild”.

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References

  1. Braun, D. A. et al. Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat. Genet. http://dx.doi.org/10.1038/ng.3512

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  1. Jessica K. Edwards
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Edwards, J. New link between nuclear pore genes and SRNS. Nat Rev Nephrol 12, 195 (2016). https://doi.org/10.1038/nrneph.2016.29

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  • DOI: https://doi.org/10.1038/nrneph.2016.29

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