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jtitle_s:("Acta mol")
1.  Stromal cell-derived factors in Duchenne muscular dystrophy  
Acta Myologica  2010;29(3):398-403.
Duchenne muscular dystrophy (DMD) is characterized by increased muscle damage and an abnormal blood flow after muscle contraction leading to a state of functional ischemia. Abundant evidence suggests that endothelial circulating progenitor cells (EPCs) play an important role in mediating vascular and muscle repair mechanisms and that the stromal cell-derived factor (SDF)-1 α chemokine is responsible for both progenitor cell mobilization from the bone marrow to peripheral blood and homing to the sites of vascular and tissue injury. Since normal neovascularization is disrupted in DMD pathogenesis and may contribute ultimately to heart failure and sudden death, the aim of the present study is to investigate whether the (SDF)-1 α, and EPCs surface receptors in terms of CD34, CD133 and kinase domain receptor (KDR) are involved in DMD pathophysiology. In the present study, peripheral blood concentrations of circulating CD34, CD133, and CD34/ CD 133 progenitor cells were measured by flow cytometry, together with serum levels of (SDF)-1α and hypoxia inducible factor (HIF-1α.), in 28 DMD patients vs. 20 healthy age and socioeconomic matching controls. Results showed a significant increase in the number of mononuclear cells bearing EPC markers, HIF-1α mRNA expression and serum (SDF)-1 α, indicating that regeneration is an ongoing process in these patients. However, this regeneration cannot counterbalance the damage induced by dystrophine mutation.
PMCID: PMC3146336  PMID: 21574524
Duchenne dystrophy; stromal cell-derived factors; EPCs surface receptors
2.  Range of motion exercise of temporo-mandibular joint with hot pack increases occlusal force in patients with Duchenne muscular dystrophy  
Acta Myologica  2010;29(3):392-397.
The purpose of this study is to evaluate whether the range of motion exercise of the temporo-mandibular joint (jaw ROM exercise) with a hot pack and massage of the masseter muscle improve biting disorder in Duchenne muscular dystrophy (DMD). The subjects were 18 DMD patients (21.3 ± 4.1 years old). The jaw ROM exercise consisted of therapist-assisted training (2 times a week) and self-training (before each meal every day). The therapist-assisted training consisted of the application of a hot pack on the cheek of the masseter muscle region (15 minutes), the massage of the masseter (10 minutes), and jaw ROM exercise (5 minutes). The self-training involved jaw ROM exercise by opening the mouth to the maximum degree, ten times. These trainings continued for six months. Outcomes were evaluated by measuring the greatest occlusal force and the distance at the maximum degree of mouth opening between an incisor of the top and that of the bottom. Six months later, the greatest occlusal force had increased significantly compared with that at the start of jaw ROM exercise (intermediate values: from 73.8N to 97.3N) (p = 0.005) as determined by the Friedman test and Scheffé's nonparametric test. The patients' satisfaction with meals increased. However, the maximum degree of mouth opening did not change after six months of jaw ROM exercise. Jaw ROM exercise in DMD is effective for increasing the greatest occlusal force.
PMCID: PMC3146337  PMID: 21574523
Duchenne muscular dystrophy; exercise; occlusal force
4.  Brachial plexopathy complicating Epstein-Barr virus infection in an adult 
Acta Myologica  2010;29(2):357-359.
Acute Epstein-Barr virus (EBV) infection is associated with central and peripheral neurological complications such as meningitis, encephalitis, myelitis and radiculopathy in 0.5-7.5% of patients (1). The peripheral nervous system manifestations of acute EBV infection include mononeuropathy, mononeuritis multiplex, autonomic neuropathy, and polyradiculopathy (2). Brachial plexopathy in children and immunocompromised adults with acute EBV infection has been described, likely as a dysimmune neuropathy triggered by the EBV (3, 4). We present a case of brachial plexopathy complicating prior EBV infection in a healthy adult.
PMCID: PMC3040589  PMID: 21314019
EBV; amyotrophy; demyelinating
5.  State of the art in muscle glycogenoses  
Acta Myologica  2010;29(2):339-342.
The recognition of a series of metabolic/enzymatic dysfunctions in glycogenoses has allowed new therapeutic advances for their treatment due to the development of recombinant enzyme. A recent advance appears enzymatic replacement therapy (ERT) in glycogenosis type II in both infantile, juvenile and adult form. Targeted manipulation of diet has been tried both in glycogenosis type II (Pompe disease) and type V (Mc Ardle disease).
PMCID: PMC3040590  PMID: 21314016
Glycogenosis; Pompe disease; McArdle disease; enzyme replacement therapy
6.  State of the art in muscle lipid diseases 
Acta Myologica  2010;29(2):351-356.
Fatty acid oxidation in mitochondrial matrix is a major source of energy in muscle, especially when physiological energy demand is increased and exceeds what can be provided through glycolysis. Not surprisingly, a group of muscle disorders due to defects in this system usually leads to the development of acute rhabdomyolysis in conditions such as infection, fasting and prolonged exercise. This group includes β-oxidation cycle defects and deficiencies of carnitine palmitoyltransferase II (CPTII) and very-long-chain acyl-CoA dehydrogenase (VLCAD). Muscle pathology is usually not very helpful for the diagnosis but immunohistochemistry may be useful for screening VLCAD deficiency. Another group of lipid dysmetablolism is lipid storage myopathy (LSM) that is pathologically characterized by increased lipid droplets both in number and size in muscle fibers. So far, causative genes have been identified in four different LSMs, comprising primary carnitine deficiency, multiple acyl-CoA dehydrogenase deficiency or glutaric aciduria type II, neutral lipid storage disease with ichthyosis, and neutral lipid storage disease with myopathy. Clinically, the LSM patients show slowly progressive muscle weakness unlike the former group. Final diagnosis is usually made by specific biochemical assays with mutation analyses. As some effective drugs have been widely used and some promising therapies are under certified, comprehensive understanding of these diseases from clinical, pathological and molecular aspects would be of much help for the patients.
PMCID: PMC3040591  PMID: 21314018
Lipid storage myopathy; primary carnitine deficiency; multiple acyl-coenzyme A dehydrogenase deficiency; neutrolipid storage disease; carnitine palmitoyltransferase II; very long-chain acyl-CoA dehydrogenase
7.  State of the art in hereditary muscle channelopathies  
Acta Myologica  2010;29(2):343-350.
A combination of electrophysiological and genetic studies has resulted in the identification of several skeletal muscle disorders to be caused by pathologically functioning ion channels and has led to the term channelopathies. Typical hereditary muscle channelopa thies are congenital myasthenic syndromes, non-dystrophic myotonias, periodic paralyses, malignant hyperthermia, and central core disease. Most muscle channelopathies are commonly considered to be benign diseases. However, lifethreatening weakness episodes or progressive permanent weakness may make these diseases severe, particularly the periodic paralyses (PP). Even in the typical PP forms characterized by episodic occurrence of weakness, up to 60% of the patients suffer from permanent weakness and myopathy with age. In addition, some PP patients present with a predominant progressive muscle weakness phenotype. The weakness can be explained by strongly depolarized fibers that take up sodium and water and that are electrically inexcitable. Drugs that repolarize the fiber membrane can restore muscle strength and may prevent progression.
PMCID: PMC3040592  PMID: 21314017
Congenital myasthenic syndromes; non-dystrophic myotonias; periodic paralyses; susceptibility to malignant hyperthermia; central core disease
8.  Pathogenesis and treatment of mitochondrial myopathies: recent advances  
Acta Myologica  2010;29(2):333-338.
In this brief review, I have highlighted recent advances in several areas of mitochondrial medicine, including mtDNA-related diseases, mendelian mitochondrial encephalomyopathies, and therapy. The pathogenic mechanisms of mtDNA mutations, especially those affecting mitochondrial protein synthesis, are still largely unknown. The pathogenicity of homoplasmic mtDNA mutations has become evident but has also called attention to modifying nuclear genes, yet another example of impaired intergenomic signaling. The functional significance of the homoplasmic changes associated with mitochondrial haplogroups has been confirmed. Among the mendelian disorders, a new form of “indirect hit” has been described, in which the ultimate pathogenesis is toxic damage to the respiratory chain. Three therapeutic strategies look promising: (i) allogeneic hematopoietic stem cell transplantation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy); (ii) bezafibrate, an activator of PGC-1α, has proven effective in animal models of mitochondrial myopathy; and (iii) pronucleus transfer into a normal oocyte is effective in eliminating maternal transmission of mtDNA, thus preventing the appearance of mtDNA-related disorders.
PMCID: PMC3040593  PMID: 21314015
mtDNA-related disorders; mendelian mitochondrial disorders; homoplasmy; pathogenesis; therapy
9.  Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene 
Acta Myologica  2010;29(1):21-24.
Summary
Limb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian patients. We present the first Portuguese patient with a limb-girdle muscular dystrophy caused by a mutation in the TCAP gene. A Caucasian male, 50 years old, presented in his early twenties, slowly progressive weakness in the upper and lower limbs. Neurologic examination revealed severe atrophy and weakness in the muscles of the arms, thighs and legs’ anterior compartment. Muscle MRI of the thighs and legs revealed severe atrophy of all the muscles of the thighs and legs’ anterolateral compartment, in a symmetrical way. Molecular studies identified the homozygous c.157C > T (p.Gln53X) mutation in exon 2 of the TACP gene, already described in Brazilian patients.
PMCID: PMC2954583  PMID: 22029105
Telethonin gene; LGMD 2G; TCAP mutation; Portugal
10.  Mendelian bases of myopathies, cardiomyopathies, and neuromyopathies 
Acta Myologica  2010;29(1):1-20.
Summary
A second genetic revolution is approaching thanks to next-generation DNA sequencing technologies. In the next few years, the 1,000$-genome sequencing promises to reveal every individual variation of DNA. There is, however, a major problem: the identification of thousands of nucleotide changes per individual with uncertain pathological meaning. This is also an ethical issue. In the middle, there is today the possibility to address the sequencing analysis of genetically heterogeneous disorders to selected groups of genes with defined mutation types. This will be cost-effective and safer.
We assembled an easy-to manage overview of most Mendelian genes involved in myopathies, cardiomyopathies, and neuromyopathies. This was entirely put together using a number of open access web resources that are listed below. During this effort we realized that there are unexpected countless sources of data, but the confusion is huge. In some cases, we got lost in the validation of disease genes and in the difficulty to discriminate between polymorphisms and disease-causing alleles. In the table are the annotated genes, their associated disorders, genomic, mRNA and coding sizes. We also counted the number of pathological alleles so far reported and the percentage of single nucleotide mutations.
PMCID: PMC2954584  PMID: 22029103

Results 1-10 (10)