LMNA R527C mutation causes an inflammation driven progeria via triggering DNA-sensing pathways

Abstract excerpt

<title>Abstract</title> <p>Homozygous mutations in Ig-like domain of LMNA cause severe progeria. Unlike typical HGPS mediated by progerin due to LMNAWT/G608G mutation, it remains elusive how these homozygous mutations cause progeria. We here found that patients with LMNAR527C/R527C mutation developed an atypical progeria with autoimmune symptoms. Compare to LMNAWT/G608G mutation, this mutation led to more severe...

Topics

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• Aging, Premature
• Cell Nucleus
• Cellular Senescence
• DNA Repair
• Lamin Type A
• Mutation
• Phenotype
• Progeria

Identifiers and source

Literature Corpus work

3422e6ea-d4b9-55a4-8d07-7d1ec98264ed

DOI

10.21203/rs.3.rs-1406652/v1