Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives

@article{Malicdan2008RecentAI,
  title={Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives},
  author={May Christine V Malicdan and Satoru Noguchi and Ichizo Nishino},
  journal={Current Opinion in Neurology},
  year={2008},
  volume={21},
  pages={596–600}
}
Purpose of reviewDistal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic strategies. Recent findingsOwing to the mutated gene, it was expected that the pathomechanism of this myopathy would be based on… 
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[Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)].
TLDR
Based on in vitro and in vivo results, phase I clinical trial for sialic acid supplementation therapy for human patients was performed in October 2010-June 2011 in Japan and in September 2011-April 2012 in the US, the latter using slow release tablets of sIALic acid.
Aquaporin-4 expression in distal myopathy with rimmed vacuoles
TLDR
Aquaporin-4 might be crucial in determining the survival or degeneration of fast-twitch type 2 fibers in distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy.
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description
TLDR
Variations in age of onset, disease progression, and distribution in patients harboring the same mutation suggest the role of other genetic‐ and environment‐modifying factors.
Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies
TLDR
In DMRV model mice, sialic acid supplementation almost completely precluded the disease phenotype, indicating that decreased sIALic acid is the cause of myopathic phenotype and siali acid supplementation can prevent the disease process.
Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies
TLDR
The notion that rimmed vacuoles can appear in Becker muscular dystrophy, and may be related to the chronic changes in muscle pathology induced by certain mutations in the DMD gene, is supported.
Nationwide patient registry for GNE myopathy in Japan
TLDR
A nationwide patient registry for GNE myopathy is developed in order to facilitate the planning of clinical trials and recruitment of candidates, and to gain further insight into the disease for the purpose of improving therapy and care.
Congenital and Other Structural Myopathies
Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy
TLDR
It is demonstrated for the first time that UPR is activated in s-IBM muscle biopsies, and similar evidence of the UPR induction in GNE-h- IBM patient muscle is found, suggesting that different intracellular mechanisms might lead to similar pathologic phenotypes.
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan
TLDR
There were no serious maternal or newborn complications, and subjective progression did not differ during or after delivery in the majority of GNE myopathy patients, however, the findings suggest the importance of considering the possibility of threatened abortion and disease progression after delivery.
Clinical Characteristics and Molecular Genetic Analysis of Korean Patients with GNE Myopathy
TLDR
It is suggested that neither homozygous nor compound heterozygous models are correlated with disease phenotype or disease severity, and among twenty-one patients, thirteen patients showed the typical GNE myopathy phenotype.
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References

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TLDR
DMRV is allelic to HIBM, an autosomal-recessive disorder with preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles and various mutations are associated with DMRV in Japan.
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy
TLDR
From gene analysis, it is evident that these diseases are not restricted to people of Japanese and Jewish ancestry, but that they are widely distributed throughout all ethnic groups.
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
TLDR
The enzyme activities of UDP-N-acetylglucosamine 2-epimerase/N- acetylmannosamine kinase (GNE), the protein affected by point mutations in HIBM/ DMRV, detected in patients’ lymphocytes, show that H IBM patients absolutely have an active UDP-GlcNAc 2-EPimerase, in accordance with the essential role of the enzyme for the biosynthesis of sialic acids.
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
TLDR
The results show that the Gne(-/-)hGNED176V-Tg mouse mimics the clinical, histopathological and biochemical features of DMRV/hIBM, making it useful for understanding the pathomechanism of this myopathy and for employing different strategies for therapy.
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TLDR
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TLDR
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TLDR
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A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins
NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations
The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot.…
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