Blog Archives
Stabilization of early Duchenne cardiomyopathy with aldosterone inhibition: results of the multicenter AIDMD trial
Duchenne muscular dystrophy incurs nearly universal dilated cardiomyopathy by the third decade of life, preceded by myocardial damage and impaired left ventricular strain by cardiac magnetic resonance. It has been shown that (1) mineralocorticoid receptor antagonist therapy with spironolactone attenuated damage while maintaining function when given early in a mouse model and (2) low-dose eplerenone … [Read more]
Use of advanced heart failure therapies in DMD
As survival and neuromuscular function in Duchenne Muscular Dystrophy (DMD) improve with glucocorticoid therapy and respiratory advances, the proportion of cardiac deaths is increasing. Little is known about the use and outcomes of advanced heart failure (HF) therapies in this population. A retrospective cohort study of 436 males with DMD was performed, from January 1, … [Read more]
No effect of triheptanoin on exercise performance in McArdle disease
The objective is here to study if treatment with triheptanoin, a 7-carbon triglyceride, improves exercise tolerance in patients with McArdle disease. McArdle patients have a complete block in glycogenolysis and glycogen-dependent expansion of tricarboxylic acid cycle (TCA), which may restrict fat oxidation. The authors hypothesized that triheptanoin metabolism generates substrates for the TCA, which potentially … [Read more]
Gene correction of LGMD2A patient-specific iPSCs for the development of targeted autologous cell therapy
Limb girdle muscular dystrophy type 2A (LGMD2A), caused by mutations in the Calpain 3 (CAPN3) gene, is an incurable autosomal recessive disorder that results in muscle wasting and loss of ambulation. To test the feasibility of an autologous induced pluripotent stem cell (iPSC)-based therapy for LGMD2A, here the authors applied CRISPR-Cas9-mediated genome editing to iPSCs … [Read more]
Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis
Individuals with X-linked myotubular myopathy (XLMTM) who survive infancy require extensive supportive care, including ventilator assistance, wheelchairs and feeding tubes. Half die before 18 months of age. The authors explored respiratory support and associated mortality risk in RECENSUS, particularly among patients ≤5 years old who received respiratory support at birth; this subgroup closely matches patients … [Read more]
miR-1 is a novel biomarker for polymyositis/dermatomyositis-associated interstitial lung disease
Although intensive immunosuppressive treatment is necessary for the severe cases with polymyositis (PM)/dermatomyositis (DM), the prognostic factors or disease activity indices for PM/DM have not been established. Here the authors investigated the association between serum microRNA-1 (miR-1) level and clinical course of patients with PM/DM. They retrospectively reviewed baseline clinical and laboratory findings, treatment regimens … [Read more]
Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of LGMD 2B
There is no cure or beneficial management option for Limb-Girdle muscular dystrophy (MD) type 2B (LGMD2B). Losartan, a blood pressure (BP) lowering angiotensin II (AngII) receptor type 1 (ATR1) blocker (ARB) with unique anti-transforming growth factor-β (TGF-β) properties, can protect muscles in various types of MD such as Duchenne MD, suggesting a potential benefit for … [Read more]
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene
Deficiency of Dolichol-P-mannose synthase subunit 3 (DPM3) affects the N-glycosylation and O-mannosylation pathways that are respectively involved in congenital disorders of glycosylation (CDG) and alpha-dystroglycanopathies. Herein, the researchers, including researchers from the Institute of Myology, describe novel pathogenic variants in the DPM3 gene in two unrelated male patients. They developed dilated cardiomyopathy in their late … [Read more]
Assessing the barriers to cardiac care in carriers of DMD and BMD
Duchenne and Becker muscular dystrophy (DBMD) are X-linked conditions causing progressive muscle weakness, muscle wasting, and cardiomyopathy in affected males. Two-thirds of cases of DBMD are inherited from a carrier female while one-third of cases occur sporadically. Women who are DBMD carriers typically do not manifest noticeable muscular symptoms. However, about 10% may develop cardiomyopathy … [Read more]
DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1
The objective of this study was to assess the effects of dystrophia myotonica protein kinase (DMPK) DNA methylation (DNAme) epivariation on muscular and respiratory profiles in patients with myotonic dystrophy type 1 (DM1). Phenotypes were assessed with standardized measures. Pyrosequencing of bisulfite-treated DNA was used to quantify DNAme levels in blood from 90 patients with … [Read more]
