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Journals / Epilepsi / 2018 / Cilt: 24 - Sayı: 1

Lafora Disease: Molecular Etiology

Lafora Hastalığı: Moleküler Etiyoloji

S. Hande ÇAĞLAYAN
Journal
Epilepsi
Pages
1–7
Publication Date
2022-10-17
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this review, the genotype-phenotype correlations, the genetic diagnosis of LD,the downregulation of glycogen metabolism as the main cause of LD pathogenesis and the regulation of glycogen synthesis as a key targetfor the treatment of LD are discussed.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Lafora Disease (LD) is a fatal neurodegenerative condition characterized by the accumulation of abnormal glycogen inclusions known asLafora bodies (LBs).
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Key Findings & Data:Patients with LD manifest myoclonus and tonic-clonic seizures, visual hallucinations, and progressive neurological deterioration beginning at the age of 8-18 years.
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Conclusion & Impact:In this review, the genotype-phenotype correlations, the genetic diagnosis of LD,the downregulation of glycogen metabolism as the main cause of LD pathogenesis and the regulation of glycogen synthesis as a key targetfor the treatment of LD are discussed.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Lafora Disease (LD) is a fatal neurodegenerative condition characterized by the accumulation of abnormal glycogen inclusions known asLafora bodies (LBs). Patients with LD manifest myoclonus and tonic-clonic seizures, visual hallucinations, and progressive neurological deterioration beginning at the age of 8-18 years. Mutations in either EPM2A gene encoding protein phosphatase laforin or NHLRC1 gene encodingubiquitin-ligase malin cause LD. Approximately, 200 distinct mutations accounting for the disease are listed in the Lafora progressive myoclonus epilepsy mutation and polymorphism database. In this review, the genotype-phenotype correlations, the genetic diagnosis of LD,the downregulation of glycogen metabolism as the main cause of LD pathogenesis and the regulation of glycogen synthesis as a key targetfor the treatment of LD are discussed.

Özet

Lafora hastalığı (LD) Lafora cisimleri (LB) olarak bilinen anormal glikojen yapıların birikmesi ile karakterize olan ölümcül bir nörodejeneratif hastalıktır. Lafora hastalarında 8–18 yaş arası başlayan miyoklonik ve tonik-klonik nöbetler, halüsinasyonlar ve ilerleyen nörolojik bozulma görülür. Lafora hastalığı protein fosfataz laforini kodlayan EPM2A geni veya ubikitin ligaz malini kodlayan NHLRC1 geni mutasyonları ile ortaya çıkar. Hastalığa sebep olan yaklaşık 200 farklı mutasyon “Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database” de listelenmiştir. Bu derleme makalede her iki gendeki mutasyonlar, genotip-fenotip ilişkileri, LD genetik tanısı, LD patojenezine yol açan başlıca mekanizma olarak glikojen metabolizmasının bozulması ve glikojen sentezi kontrolünün LD tedavisinde en önemli hedef olduğu tartışılmaktadır.

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Cite This Article

ÇAĞLAYAN, S. H. (2022). Lafora Disease: Molecular Etiology. Epilepsi, Cilt: 24 - Sayı: 1, 1–7. https://ajindex.com/articles/501661

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