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Important New Review Articles on DM

Frontiers of Neurology Publishes a Series of DM Reviews

A new set of six review articles is being published on various aspects of DM. These articles comprise a special issue of Frontiers in Neurology, entitled: ‘Beyond Borders: Myotonic Dystrophies—A European Perception', co-edited by Profs. Giovanni Meola and Benedikt Schoser. Together, these articles represent an important new reference source for DM stake-holders.

Coverage for A Broad Range of DM Topics

Wenninger et al. (2018) note the difficulties caused in interpretation of the highly variable and multi-systemic phenotypes exhibited in DM1 and DM2. They have focused this review on what they define as the ‘core clinical features’ of DM, with the intent that this perspective can facilitate early diagnosis and treatment.

André et al. (2018) review the evidence that DM1 and DM2 have an impact throughout the skeletal muscle life cycle, influencing its development, growth, regenerative capacity, and premature aging. They suggest that invoking the well-recognized involvement of the expanded repeat and RNA dysfunction alone may be too simplistic an explanation for the pathogenesis of skeletal muscle in DM.

 

Matloka et al. (2018) take on the important issue of using cell-based systems to understand pathogenic mechanisms and to screen candidate therapeutics for DM. Their article reviews the history of utilization of cellular models in DM1 and catalogs models that are available for basic science and translational research.

López-Morató et al. (2018) recognize the extensive efforts to therapeutically target the depletion of MBNL by expanded repeat DMPK transcripts using large molecules specifically designed for the target. In their review, they look beyond those efforts at other targets that have been engaged by small molecule drug discovery and development programs for DM1.

Two other articles remain to be published—see below.

Publication Status

The complete articles by Chakraborty et al. (2018) and Mahyera et al. (2018) are not yet available, although the abstracts are on the Frontiers of Neurology website. The work by Dr. Chakraborty and colleagues discusses use of fly models to understand the molecular and physiologic pathogenesis of the heart in DM1 and DM2, and the small molecules that have been evaluated for cardiac dysfunction in these models. The work by Dr. Mahyera and colleagues discusses the population distribution and structure of expanded repeat tracts in DM2 patients in Germany.

Four of the article pdfs are available, open-access, at the Frontiers in Neurology website. The other two articles will be posted to this site when published.

References:

Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy
André LM, Ausems CRM, Wansink DG, Wieringa B.
Front Neurol. 2018 May 28;9:368. doi: 10.3389/fneur.2018.00368. eCollection 2018. Review.
[This article is available as a pdf on the journal website but was not yet listed in PubMed at the time of this writing, so the link to the PubMed abstract was not yet available.]

Modelling of myotonic dystrophy cardiac phenotypes in Drosophila.
Chakraborty M, Llamusi B, Artero R.
Front Neurol. doi: 10.3389/fneur.2018.00473. eCollection 2018. Review.
[This article was not listed in PubMed, and it is listed as ‘provisionally accepted’ on the Frontiers in Neurology website. Thus, the citation is incomplete and neither the PubMed link nor the pdf were available at the time of this writing.]

Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1.
López-Morató M, Brook JD, Wojciechowska M.
Front Neurol. 2018 May 18;9:349. doi: 10.3389/fneur.2018.00349. eCollection 2018. Review.

Distribution and Structure of DM2 repeat tract alleles in the German Population.
Mahyera AS, Schneider T, Halliger-Keller B, Schrooten K, Hörner E-M, Rost S, Kress W.
Front Neurol. doi: 10.3389/fneur.2018.00473. eCollection 2018. Review.
[This article was not listed in PubMed, and it is listed as ‘provisionally accepted’ on the Frontiers in Neurology website. Thus, the citation is incomplete and neither the PubMed link nor the pdf were available at the time of this writing.]

Cells of Matter-In Vitro Models for Myotonic Dystrophy.
Matloka M, Klein AF, Rau F, Furling D.
Front Neurol. 2018 May 23;9:361. doi: 10.3389/fneur.2018.00361. eCollection 2018. Review.

Core Clinical Phenotypes in Myotonic Dystrophies.
Wenninger S, Montagnese F, Schoser B.
Front Neurol. 2018 May 2;9:303. doi: 10.3389/fneur.2018.00303. eCollection 2018. Review.

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