laminopathy


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laminopathy

A generic term for any enzymopathy caused by mutations of genes that encode lamins, which form the nuclear lamina. Lamins are intermediate filament proteins responsible for the molecular scaffolding under the nuclear membrane which attach to the membrane by farnesylation, a process in which hydrophobic lipid molecules are linked to a protein of interest (here, lamin A/C and lamin B).
 
Clinical findings
Muscular dystrophy, lipodystrophy, diabetes, dermopathy, neuropathy, leukodystrophy, progeria.
 
Examples
Charcot-Marie-Tooth disorder type 2B1, childhood progeria syndrome (Hutchinson-Gilford syndrome), dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy type 2, familial partial lipodystrophy, limb-girdle muscular dystrophy type 1B,  mandibuloacral dysplasia, some cases of Werner syndrome.

laminopathy

(lă-mĭn-ŏp′ă-thē)
Any disease caused by defective construction of lamins within cells.
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References in periodicals archive ?
The first genetic model for the study of laminopathy was the Lmna knockout mouse, which has become one of the most frequently used models to determine relationships between physiological functions of nuclear lamins and their contribution to the molecular pathophysiology of laminopathies.
Was there any indication for a NMD, such as Barth-syndrome, myoad-enylate-deaminase deficiency, myotonic dystrophy, dystrophinopathy, zaspopathy, hereditary neuropathy, Friedreich ataxia, Pompe's disease, a mitochondrial disorder, or laminopathy, which have been reported to be associated with LVHT?