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PMID: 16511604 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Prelamin A and lamin A appear to be dispensable in the nuclear lamina.

The Journal of clinical investigation ·Vol. 116 ·No. 3 ·2006-03-00 ·Pages 743-52

Fong LG, Ng JK, Lammerding J, Vickers TA, Meta M, Coté N, Gavino B, Qiao X, Chang SY, Young SR, Yang SH, Stewart CL, Lee RT, Bennett CF, Bergo MO, Young SG

Abstract

Lamin A and lamin C, both products of Lmna, are key components of the nuclear lamina. In the mouse, a deficiency in both lamin A and lamin C leads to slow growth, muscle weakness, and death by 6 weeks of age. Fibroblasts deficient in lamins A and C contain misshapen and structurally weakened nuclei, and emerin is mislocalized away from the nuclear envelope. The physiologic rationale for the existence of the 2 different Lmna products lamin A and lamin C is unclear, although several reports have suggested that lamin A may have particularly important functions, for example in the targeting of emerin and lamin C to the nuclear envelope. Here we report the development of lamin C-only mice (Lmna(LCO/LCO)), which produce lamin C but no lamin A or prelamin A (the precursor to lamin A). Lmna(LCO/LCO) mice were entirely healthy, and Lmna(LCO/LCO) cells displayed normal emerin targeting and exhibited only very minimal alterations in nuclear shape and nuclear deformability. Thus, at least in the mouse, prelamin A and lamin A appear to be dispensable. Nevertheless, an accumulation of farnesyl-prelamin A (as occurs with a deficiency in the prelamin A processing enzyme Zmpste24) caused dramatically misshapen nuclei and progeria-like disease phenotypes. The apparent dispensability of prelamin A suggested that lamin A-related progeroid syndromes might be treated with impunity by reducing prelamin A synthesis. Remarkably, the presence of a single Lmna(LCO) allele eliminated the nuclear shape abnormalities and progeria-like disease phenotypes in Zmpste24-/- mice. Moreover, treating Zmpste24-/- cells with a prelamin A-specific antisense oligonucleotide reduced prelamin A levels and significantly reduced the frequency of misshapen nuclei. These studies suggest a new therapeutic strategy for treating progeria and other lamin A diseases.

MeSH Terms
Animals Cell Line, Transformed Cells, Cultured Female Fibroblasts/metabolism Lamin Type A/deficiency,genetics,metabolism,physiology Mice Mice, Inbred C57BL Mice, Knockout Mice, Transgenic Muscle Weakness/genetics Nuclear Lamina/physiology Nuclear Proteins/genetics,physiology Protein Isoforms/genetics,metabolism Protein Precursors/genetics,physiology RNA, Messenger/metabolism Skull/abnormalities Spine/abnormalities
Chemicals
Lamin Type A Nuclear Proteins Protein Isoforms Protein Precursors RNA, Messenger lamin C prelamin A
Authors & Affiliations
16 authors, click to expand affiliations / ORCID
Fong Loren G
Department of Medicine/Division of Cardiology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA. [email protected]
Ng Jennifer K
Lammerding Jan
Vickers Timothy A
Meta Margarita
Coté Nathan
Gavino Bryant
Qiao Xin
Chang Sandy Y
Young Stephanie R
Yang Shao H
Stewart Colin L
Lee Richard T
Bennett C Frank
Bergo Martin O
Young Stephen G
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
Published
2006-03-00
Pages
743-52
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC1386109
Subset
IM
Grants
NCI NIH HHS · R01 CA099506 · United States
NINDS NIH HHS · R01 NS059348 · United States
NIAMS NIH HHS · R01 AR050200 · United States
NIAID NIH HHS · AI054384 · United States
NIAID NIH HHS · R01 AI054384 · United States
NCI NIH HHS · CA099506 · United States
NIAMS NIH HHS · AR050200 · United States
NHLBI NIH HHS · R01 HL082792 · United States
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