LMNA


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Related to LMNA: progeria

LMNA

A gene on chromosome 1q22 that encodes lamin A/C, a protein highly conserved in evolution that forms part of the two-dimensional matrix of proteins located next to the inner nuclear membrane. Lamins are involved in providing nuclear stability and chromatin structure, and in gene expression.

Molecular pathology
LMNA mutations cause the so-called laminopathies—e.g., Charcot-Marie-Tooth disease type 2B1, progeria (Hutchinson-Gilford syndrome), dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy type 2, familial partial lipodystrophy, limb-girdle muscular dystrophy type 1B, mandibuloacral dysplasia, and some cases of Werner syndrome.
References in periodicals archive ?
Ten of the heterozygous mutations (c.1357C>T, c.746G>A, c.1124C>G, c.695G>A, c.1558T>C, c.745C>T, c.736G>A, c.1151A>G, c.1118T>A, and c.1580G>C) had been reported previously, while the other eight were novel mutations (c.754G>A, c.1152G>C, c.1681C>G, c.827G>C, c.92_94del, c.770T>C, c.823C>G, and c.1478A>C) (according to http://www.dmd.nl/, the UMD- LMNA database and the HGMD pro-database).
Bae et al., "Hutchinson-Gilford progeria syndrome with G608G LMNA mutation," Journal of Korean Medical Science, vol.
Lmna knockout mice in a C57BL/6 genetic background were generated as described previously (Sullivan et al., 1999).
Key words: Limb girdle muscular dystrophy, dilated cardiomyopathy, LMNA gene, mutation, cardiac rehabilitation, atrioventricular block.
These disorders and their relationship to LMNA mutations have been reviewed recently {Burke and Stewart (2002)}, and Hutchinson (2002) has reviewed the function of lamins in the nuclear envelope.
R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B.
Given their life threatening potential and knowing that it can result from a genetic defect, opens up a wide new set of options for prevention, early diagnosis, risk reduction (MYBC3 / MYH7 positive Hypertrophic cardiomyopathy) and sometimes curative treatment (LMNA positive Dilated cardiomyopathy).
In case of LmnA/C, as it can be observed in Figure 8(b), both the PRE-treatment and POST-treatment of 0.3 mg/mL EDA induced an increase in LmnC levels, but not LmnA, which remained stable in every treatment comparing with SIPSF cells (C + [H.sub.2][O.sub.2]).
LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration.
Olson, "Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation," American Journal of Cardiology, vol.
Askjaer, "Hutchinson-Gilford progeria syndrome: a premature aging disease caused by LMNA gene mutations," Ageing Research Reviews, vol.