Muscular Dystrophy Research Today is a free monthly online journal that collates and summarizes the latest research about Muscular Dystrophy, including details on duchenne muscular dystrophy, symptoms, treatment.

Corneal thickness and endothelial cell characteristics in patients with myotonic dystrophy.

Rosa N, Lanza M, Borrelli M, Filosa ML, De Bernardo M, Ventriglia VM, Cecio MR, Politano L

Centro Grandi Apparecchiature, Second University of Naples, Naples, Italy. nicola.rosa@unina2.it

PURPOSE: To compare the characteristics of the endothelial cells of patients with myotonic dystrophy and those of normal subjects to determine if thicker corneas in patients with myotonic dystrophy are the result of their having abnormal endothelial cells leading to corneal edema. DESIGN: Prospective, comparative case series. PARTICIPANTS: Fifty-two eyes of patients with myotonic dystrophy and 52 eyes of normal age- and gender-matched subjects. METHODS: Central corneal thickness (CCT) and endothelial cell counts and shape were measured with an SP 3000P specular microscope (Topcon, Tokyo, Japan) in patients with myotonic dystrophy and were compared with those of age- and gender-matched healthy subjects. MAIN OUTCOME MEASURES: Central corneal thickness, endothelial cell counts, pleomorphism, and coefficient of variation (CoV). RESULTS: In patients with myotonic dystrophy, the mean+/-standard deviation CCT measurement was 533+/-38 microm; the mean+/-standard deviation cell count was 2601+/-365 cell/mm(2); and the mean+/-standard deviation CoV was 23.3+/-4.4 (P<0.001). The mean+/-standard deviation pleomorphism was 64.4+/-8.4%. In healthy subjects, the mean+/-standard deviation CCT measurement was 514+/-27 microm (P = 0.002); the mean+/-standard deviation cell count was 2649+/-363 cell/mm(2) (P = 0.48); the mean+/-standard deviation CoV was 27.6+/-5.5 (P<0.001); and the mean+/-standard deviation pleomorphism was 61.1+/-8.6% (P = 0.04). CONCLUSIONS: Thicker corneas found in patients with myotonic dystrophy are not related to endothelial number or appearance as assessed in this study.

Published 9 February 2010 in Ophthalmology, 117(2): 223-5.
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Articles on Muscular Dystrophy published 4 February 2010:

Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy.   Nat Struct Mol Biol, 17(2): 187-93.

The common form of myotonic dystrophy (DM1) is associated with the expression of expanded CTG DNA repeats as RNA (CUG(exp) RNA). To test whether CUG(exp) RNA creates a global splicing defect, we compared the skeletal muscle of two mouse models of DM1, one expressing a CTG(exp) transgene and another homozygous for a defective muscleblind 1 (Mbnl1) gene. Strong correlation in splicing changes for approximately 100 new Mbnl1-regulated exons indicates that loss of Mbnl1 explains >80% of the ... [Abstract] [Full-text]

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Optimum management of Duchenne muscular dystrophy (DMD) requires a multidisciplinary approach that focuses on anticipatory and preventive measures as well as active interventions to address the primary and secondary aspects of the disorder. Implementing comprehensive management strategies can favourably alter the natural history of the disease and improve function, quality of life, and longevity. Standardised care can also facilitate planning for multicentre trials and help with the ... [Abstract] [Full-text]

Articles on Muscular Dystrophy published 3 February 2010:

TGF-beta in the pathogenesis and prevention of disease: a matter of aneurysmic proportions.   J Clin Invest, 120(2): 403-7.

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Articles on Muscular Dystrophy published 27 January 2010:

Acute inhibition of myostatin-family proteins preserves skeletal muscle in mouse models of cancer cachexia.   Biochem Biophys Res Commun, 391(3): 1548-54.

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Articles on Muscular Dystrophy published 25 January 2010:

Calcium-binding proteins in skeletal muscles of the mdx mice: potential role in the pathogenesis of Duchenne muscular dystrophy.   Int J Exp Pathol, 91(1): 63-71.

Duchenne muscular dystrophy is one of the most common hereditary diseases. Abnormal ion handling renders dystrophic muscle fibers more susceptible to necrosis and a rise in intracellular calcium is an important initiating event in dystrophic muscle pathogenesis. In the mdx mice, muscles are affected with different intensities and some muscles are spared. We investigated the levels of the calcium-binding proteins calsequestrin and calmodulin in the non-spared axial (sternomastoid and diaphragm), ... [Abstract] [Full-text]

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Articles on Muscular Dystrophy published 21 January 2010:

Mitochondrial respiratory chain and creatine kinase activities in mdx mouse brain.   Muscle Nerve, 41(2): 257-60.

In this study we investigated energy metabolism in the mdx mouse brain.To this end, prefrontal cortex, cerebellum, hippocampus, striatum, and cortex were analyzed. There was a decrease in Complex I but not in Complex II activity in all structures. There was an increase in Complex III activity in striatum and a decrease in Complex IV activity in prefrontal cortex and striatum. Mitochondrial creatine kinase activity was increased in hippocampus, prefrontal cortex, cortex, and striatum. Our ... [Abstract] [Full-text]

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