LMNA

(redirected from Hgps)
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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.
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References in periodicals archive ?
A squad list of no more than 17 players who do not fit the 'Home Grown Player' criteria must be submitted, with the remaining eight slots to be taken by members of the squad who meet the HGP requirements.
Both Gomez (pictured) and Alexander-Arnold meet the U21 requirements, while Clyne and Robertson meet the HGP criteria.
"Among patients with HGPS, lonafarnib monotherapy, compared with no treatment, was associated with a lower mortality rate after 2.2 years of follow-up," the authors write.
Thanks to genetic mapping, scientists now know that HGPS is caused by a mutation in the LMNA gene, which encodes for lamin A protein.
The research revealed that replication stress is a key cause of the underlying DNA damage accumulation found in the cells of those with HGPS. Replication stress occurs when the machinery that replicates DNA encounters obstacles along the way that makes replication to stall until the obstacle is removed.
In the case of those with HGPS, however, Gonzalo found that progerin causes these strategies to falter.
Algorithm 1: Pseudocode for the HGPS. (1) Initialize generations, Initialize Population size: "m", mutation probability: "[P.sub.m]", crossover probability: "[P.sub.c]", number of genes per individual: "[n.sub.c]", upper and lower bounds values for each gene: "[x.sub.max](nc)", "[x.sub.min](nc)".
The comparisons are performed using only simple optimization algorithms like GA (Genetic Algorithm), DE (Differential Evolution), PSO (Particle Swarm Optimization), FMA (Firefly Metaheuristic Algorithm), and the proposed HGPS algorithm.
Results from GA, FMA, and SQP show to be heavier then that reported by [6] using SORA/SQP method, but both PSO and HGPS (particularly HGPS) achieved a lighter truss solution.
[6] Nonstandard abbreviafions: CDG, congenital disorders of glycosylation; TIEF, transferrin isoelectric focusing; ApoC-III, apolipoprotein C-III; IEF, isoelectric focusing; Ga1NAc, N-acetylgalactosamine; NeuAc, sialic acid; FTC, familial tumoral calcinosis (MIM 211900); HIBM, hereditary inclusion body myopathy (MIM 600737); MEB, muscle-eye-brain disease (MIM 253280); HUS, hemolyfic uremic syndrome; HGPS, Hutchinson Gilford progeria syndrome (MIM 176670), F5FSD, a combined deficiency of factor V and factor VIII (MIM 227300); ER, endoplasmic reficulum; COG7, conserved oligomeric Golgi complex; CMP-NeuAc: cytidine 5'monophospho-N-acetylneuraminic acid; GNE/MNK, uridine-5'-diphosphate-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase; GALNT3, UDP-Ga1NAc transferase 3.
Studies have identified a mutant version of the protein lamin A as the cause for HGPS. To see whether the defects in elderly patients' cells could be attributable to abnormal lamin A, the scientists applied a genetic technique that mends the defective protein.