Nuclear Lamins: Key Proteins for Embryonic Development

Abstract

Lamins are essential components of the nuclear envelope and have been studied for decades due to their involvement in several devastating human diseases, the laminopathies. Despite intensive research, the molecular basis behind the disease state remains mostly unclear with a number of conflicting results regarding the different cellular functions of nuclear lamins being published. The field of developmental biology is no exception. Across model organisms, the types of lamins present in early mammalian development have been contradictory over the years. Due to the long half-life of the lamin proteins, which is a maternal factor that gets carried over to the zygote after fertilization, investigators are posed with challenges to dive into the functional aspects and significance of lamins in development. Due to these technical limitations, the role of lamins in early mammalian embryos is virtually unexplored. This review aims in converging results that were obtained so far in addition to the complex functions that ceases if lamins are mutated.

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

“…Through alternative splicing, LMNA encodes proteins lamin A and C, intermediate filaments that are required during development and cell differentiation and are components of the nuclear envelope (Bonne et al, 2003;Paul and Fulka, 2022). More than 500 rare genetic alterations in LMNA have been found to be responsible for a group of diseases called laminopathies (Worman and Bonne, 2007;Dittmer and Misteli, 2011).…”