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A PTG Variant Contributes to a Milder Phenotype in Lafora Disease

Authors: Guerrero Rosa; Vernia Santiago; Sanz Raul; AbreuRodriguez Irene; Almaraz Carmen; GarciaHoyos Maria; Michelucci Roberto; +6 Authors

A PTG Variant Contributes to a Milder Phenotype in Lafora Disease

Abstract

Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that may contribute to the clinical course of Lafora disease patients with EPM2A or EPM2B mutations. We established a list of 43 genes coding for proteins related to laforin/malin function and/or glycogen metabolism and tested common polymorphisms for possible associations with phenotypic differences using a collection of Lafora disease families. Genotype and haplotype analysis showed that PPP1R3C may be associated with a slow progression of the disease. The PPP1R3C gene encodes protein targeting to glycogen (PTG). Glycogen targeting subunits play a major role in recruiting type 1 protein phosphatase (PP1) to glycogen-enriched cell compartments and in increasing the specific activity of PP1 toward specific glycogenic substrates (glycogen synthase and glycogen phosphorylase). Here, we report a new mutation (c.746A>G, N249S) in the PPP1R3C gene that results in a decreased capacity to induce glycogen synthesis and a reduced interaction with glycogen phosphorylase and laforin, supporting a key role of this mutation in the glycogenic activity of PTG. This variant was found in one of two affected siblings of a Lafora disease family characterized by a remarkable mild course. Our findings suggest that variations in PTG may condition the course of Lafora disease and establish PTG as a potential target for pharmacogenetic and therapeutic approaches.

Countries
Spain, Italy
Keywords

Adult, Genotype, Medicina, Science, Blotting, Western, PPP1R3C; modifier gene; mutation; glycogen metabolism, Young Adult, Cell Line, Tumor, Protein Phosphatase 1, Two-Hybrid System Techniques, Phosphoprotein Phosphatases, Humans, RNA, Small Interfering, Q, R, Intracellular Signaling Peptides and Proteins, HEK293 Cells, Haplotypes, Lafora Disease, Mutation, Mutagenesis, Site-Directed, Medicine, Female, Carrier Proteins, Research Article

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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29
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