Proteins beneath the nuclear boundary
Lamins A and C belong to a protein network just beneath the nucleus's inner membrane. Their instructions are carried by the gene LMNA. Changes in this gene can be linked to different diseases, rather than one single kind of damaged nucleus. [1] [3]
What human genetics showed
Researchers found LMNA changes that traveled with an inherited muscle disorder in five families. That disorder can also affect the heart's electrical system. This finding tied particular changes to a particular disease. [1]
Another study examined Hutchinson-Gilford progeria, a rare disorder with features resembling premature ageing. A common DNA change altered how RNA was assembled, creating a shortened lamin A protein. Patient cells also had abnormal nuclear outlines. This is evidence about progeria; it does not show that ordinary ageing has the same cause. [2]
What stretching cells showed
In a separate experiment, scientists stretched mouse cells that lacked lamin A/C. Their nuclei changed shape more than those of comparison cells, and the deficient cells coped less well with the strain. This helps explain a role in mechanical resistance. It does not prove that every human laminopathy follows this route: losing a protein completely differs from changing one part of it. [3]
Primary studies behind this guide
- Bonne et al. (1999), Nature Genetics 21:285–288. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. DOI: 10.1038/6799. Primary research.
- Eriksson et al. (2003), Nature 423:293–298. Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome. DOI: 10.1038/nature01629. Primary research.
- Lammerding et al. (2004), Journal of Clinical Investigation 113:370–378. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. DOI: 10.1172/JCI19670. Primary research.
Scientific text and the identity and fit of the cited studies were checked on 3 October 2026. This guide covers the experiments described here; it is not an exhaustive literature review. See the audit record for access limits and remaining work.