Blog Archives
Safety of follistatin gene therapy in patients with Becker muscular dystrophy
Becker muscular dystrophy (BMD) is a variant of dystrophin deficiency resulting from DMD gene mutations. Phenotype is variable with loss of ambulation in late teenage or late mid-life years. There is currently no treatment for this condition. In this BMD proof-of-principle clinical trial, a potent myostatin antagonist, follistatin (FS), was used to inhibit the myostatin … [Read more]
Preimplantation diagnosis using next generation sequencing identifies a rare genetic disease
The use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. The following study reports the first case of preimplantation diagnosis through NGS of a form of LAMA2-related muscular dystrophy. A couple went to the Reproductive Medicine Centre for a preconceptional genetic consultation and … [Read more]
Asynchronous regeneration drives muscle fibrosis in DMD patients
This study aimed to determine the mechanisms underlying failure of muscle regeneration that is observed in dystrophic muscle through hypothesis generation using muscle profiling data (human dystrophy and murine regeneration). The authors found that transforming growth factor β-centered networks strongly associated with pathological fibrosis and failed regeneration were also induced during normal regeneration but at … [Read more]
New Guideline provides direction for the diagnosis and treatment of limb-girdle muscular dystrophies
This report reviews the current evidence and makes practice recommendations regarding the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs). The authors establish that most LGMDs are rare, with estimated prevalences ranging from 0.07 per 100,000 to 0.43 per 100,000. The frequency of some muscular dystrophies varies based on the ethnic background of the population … [Read more]
PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?
McArdle disease is caused by an inherited deficiency of the enzyme myophosphorylase, resulting in exercise intolerance from childhood and acute crises of early fatigue and contractures. In severe cases, these manifestations can be accompanied by rhabdomyolysis, myoglobinuria, and fatal renal failure. Diagnosis of McArdle disease is based on clinical diagnostic tests, together with an absence … [Read more]
Variants in the dystrophin gene are linked to cognitive function
This study investigated whether single-nucleotide dystrophin gene (DMD) variants are associated with variability in cognitive functions in healthy populations. The study included 1240 participants from the Erasmus Rucphen family (ERF) study and 1464 individuals from the Rotterdam Study (RS). The participants whose exomes were sequenced and who were assessed for various cognitive traits were included … [Read more]
A new muscle glycogen storage disease associated with Glycogenin-1 deficiency
This study describes a slowly progressive myopathy in seven unrelated adult patients with storage of polyglucosan in muscle fibers. Genetic investigation revealed homozygous or compound heterozygous deleterious variants in the glycogenin-1 gene (GYG1). Most patients showed depletion of glycogenin-1 in skeletal muscle whereas one showed presence of glycogenin-1 lacking the C-terminal that normally binds glycogen … [Read more]
BIN1 mutations cause centronuclear myopathy
Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear centralization. The severe neonatal X-linked form is due to mutations in MTM1, autosomal recessive centronuclear myopathy with neonatal or childhood onset results from mutations in BIN1 (amphiphysin 2), and dominant cases were previously associated … [Read more]
Drisapersen DEMAND II study: Promising safety and efficacy results
Duchenne muscular dystrophy is caused by dystrophin deficiency and muscle deterioration and preferentially affects boys. Antisense-oligonucleotide-induced exon skipping allows synthesis of partially functional dystrophin. This exploratory, double-blind, placebo-controlled study investigated the efficacy and safety of drisapersen, a 2′-O-methyl-phosphorothioate antisense oligonucleotide, given for 48 weeks. Fifty three male patients (≥5 years of age; time to rise … [Read more]
Effect of antioxidants on FSHD muscle function
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disease characterized by progressive weakness and atrophy of specific skeletal muscles. As growing evidence suggests that oxidative stress may contribute to FSHD pathology, antioxidants that might modulate or delay oxidative insults could help maintain FSHD muscle function. The main objective of this study was to test whether … [Read more]
