LMNA

(redirected from FPLD)
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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 ?
FPLD was diagnosed based on loss of adipose tissue from selected areas.
All patients with CGL and FPLD underwent molecular genetic studies of the genes AGPAT2, BSCL2, CAV1, PTRF, LMNA, LMNB2, PPARG, PLIN1, AKT2, and CIDEC that confirmed mutations in AGPAT2, BSCL2, PTRF, LMNA, PPARG loci in most patients.
Of the FPLD patients, eight had mutations in LMNA and one had FPLD caused by a PPARG mutation.
To achieve the flexibility, speed, and memory size required, NI used a large FPLD to handle triggering, clocks, signal routing, and general signal management between the host PC and the instrument.
Point mutations in exon 8 (R482Q, R482W) and exon 11 (G465D) affect various human phenotypes (Cao and Hegele, 2000; Garg et al., 2001) and can cause an inherited disorder called familial partial lipodystrophy (FPLD), which is characterized by abnormal body fat distribution.
In addition to FPLD, mutations in the LMNA gene can also cause infantile Hutchinson-Gilford Progeria Syndrome (HGPS), a rare disease that is characterized by abrupt premature senility at a young age.
Hazel Morgan head at FPLD said: "We would like to see research projects which actively involve a wide range of people ?