A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).

@article{Vieira2014ADI,
  title={A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).},
  author={Nat{\'a}ssia M. Vieira and Michel Satya Naslavsky and Luciana Licinio and Fernando Kok and David Schlesinger and Mariz Vainzof and Nury Sanchez and Joao Paulo Kitajima and Lihi Gal and Natale Cavaçana and Peter R Serafini and Silvia Gabriela Chuartzman and Cristina Vasquez and Adriana Mimbacas and Vincenzo Nigro and Rita C. M. Pavanello and Maya Schuldiner and Louis M. Kunkel and Mayana Zatz},
  journal={Human molecular genetics},
  year={2014},
  volume={23 15},
  pages={
          4103-10
        }
}
Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. More than 20 genes with autosomal recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H) have been mapped/identified to date. Mutations are known for six among the eight mapped autosomal dominant forms: LGMD1A (myotilin), LGMD1B (lamin A/C), LGMD1C (caveolin-3), LGMD1D… Expand
Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain
TLDR
It is indicated that the same mutation in HNRNPDL results in various phenotypes of LGMD D3, a group of clinically and genetically heterogeneous diseases characterized by weakness and wasting of the pelvic and shoulder girdle muscles, and that acceleration of intrinsic self-aggregation of HNRnPDL caused by mutation of the prior-like domain may contribute to the pathogenesis of the disease. Expand
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Two main phenotypic entities are considered: the childhood form developing the clinical features in the first decade of life and the late-onset phenotype, that present distinct clinical, histopathological and MRI features in dominant LGMDs. Expand
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Results indicate both genetic and physical interactions between disease-linked RBPs and DNAJB6/mrj, suggesting etiologic overlap between the pathogenesis of hIBM and LGMD initiated by mutations in hnRNPA2B1 and DNAJD6. Expand
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The data support that LGMD1D mutations in DNAJB6 disrupt its sarcoplasmic function suggesting a role for DNAJB5b in Z-disc organization and stress granule kinetics and that hnRNPA1 and hn RNPA2/B1 formed sarcoplasmsic aggregates in patients with LG MD1D. Expand
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Autosomal dominant limb girdle muscular dystrophy D3 HNRNPDL-related is a rare dominant myopathy caused by mutations in HNRNPDL. Only three unrelated families have been described worldwide, aExpand
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Although the mechanisms underlying the selective skeletal muscle involvement remain to be elucidated, the immunohistochemical results suggest a broad sequestration of RBPs by the mutated hnRNPA1. Expand
Molecular Genetics of Limb‐Girdle Muscular Dystrophies
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Limb-girdle muscular dystrophies should be considered the mildest expression of the phenotypic spectrum of dystroglycanopathies and an appropriate diagnostic approach using clinical, pathological, biochemical and genetic resources is essential to achieve the correct diagnosis. Expand
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A deeper understanding of these disease pathways could yield a new generation of precision therapies that would each be expected to treat a broader range of LGMD patients than a single subtype, thus expanding the scope of the molecular medicines that may be developed for this complex array of muscular dystrophies. Expand
A Journey with LGMD: From Protein Abnormalities to Patient Impact
TLDR
The LGMD pathway is reviewed, starting with the genetic mutations that encode proteins involved in muscle maintenance and repair, and including the genotype–phenotype relationship of the disease, the epidemiology, disease progression, burden of illness, and emerging treatments. Expand
Genetic basis of limb-girdle muscular dystrophies: the 2014 update
  • V. Nigro, M. Savarese
  • Biology, Medicine
  • Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
  • 2014
TLDR
The present review has the aim of recapitulating the genetic basis of LGMD ordering and of proposing a nomenclature for the orphan forms. Expand
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The involvement of gene related to the nuclear transport suggests a novel disease mechanism leading to muscular dystrophy. Expand
A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
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Clinical findings showed variable expressivity in terms of age at onset and disease severity, and two muscle biopsies showed morphological findings compatible with MD associated with subsarcolemmal accumulation of mitochondria and the presence of multiple mitochondrial DNA deletions. Expand
A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21
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A genomewide scan was performed which mapped a new locus for this disorder at 4p21 with a maximum two-point lod score of 6.62 for marker D4S2964, and it is proposed to classify this AD form of LGMD as LGMD1G. Expand
hnRNP A1 and A/B Interaction with PABPN1 in Oculopharyngeal Muscular Dystrophy
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The hnRNP proteins are involved in mRNA processing and mRNA nucleocytoplasmic export, sequestering of hnRNPs in OPMD intranuclear aggregates supports the view that O PMD intanuclear inclusions are “poly(A) RNA traps”, which would interfere with RNA export, and cause muscle cell death. Expand
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TLDR
Understanding similarities in patients affected by mutations in different genes, differences in patients carrying the same mutations or why some muscles are affected while others are spared remains a major challenge and will depend on future knowledge of gene expression, gene and protein interactions and on identifying modifying genes and other factors underlying clinical variability. Expand
HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence
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The identification of hnRNP H as a factor capable of binding and possibly modulating nuclear retention of mutant DMPK mRNA may prove to be an important link in the understanding of the molecular mechanisms that lead to DM1 pathogenesis. Expand
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TLDR
It is proposed that the hnRNP G/Tra2beta ratio contributes to the cellular splicing preferences and that the higher proportion of hn RNP G in skeletal muscle plays a role in preventing the incorporation of the pseudo-exon and thus in preventing skeletal muscle dystrophy. Expand
Interaction of musleblind, CUG‐BP1 and hnRNP H proteins in DM1‐associated aberrant IR splicing
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It is demonstrated that coordinated physical and functional interactions between hnRNP H, CUG‐BP1 and MBNL1 dictate IR splicing in normal and DM1 myoblasts. Expand
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The novel observation that disruption of the smooth/CG9218 locus leads to age-dependent muscle degeneration, and motor dysfunction is made, setting the stage for investigating the role of the corresponding mammalian homolog, hnRNP L, in muscle function. Expand
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