Myology research highlights
RSS feedIntraperitoneal injection of microencapsulated Sertoli cells restores muscle morphology and performance in dystrophic mice
Duchenne muscular dystrophy (DMD) is a genetic disease characterized by progressive muscle degeneration leading to impaired locomotion, respiratory failure and premature death. In DMD patients, inflammatory events secondary to dystrophin mutation play a major role in the progression of the pathology. Sertoli cells (SeC) have been largely used to protect xenogeneic engraftments or induce trophic … [Read more]
A phase I/IIa trial of intra-arterial infusions of HLA-matched donor MABs in DMD patients
Intra-arterial transplantation of mesoangioblasts (MABs) proved safe and partially efficacious in preclinical models of muscular dystrophy. This study reports the first-in-human, exploratory, non-randomized open-label phase I-IIa clinical trial of intra-arterial HLA-matched donor cell transplantation in 5 Duchenne patients. Escalating doses of donor-derived mesoangioblasts were administered in limb arteries under immunosuppressive therapy (tacrolimus). Four consecutive infusions … [Read more]
Fine-tuning the onset of myogenesis
Skeletal myogenesis in vertebrates is initiated at different sites of skeletal muscle formation during development, by activation of specific control elements of the myogenic regulatory genes. In the mouse embryo, Myf5 is the first myogenic determination gene to be expressed and its spatiotemporal regulation requires multiple enhancer sequences, extending over 120 kb upstream of the Mrf4-Myf5 … [Read more]
Protective effect of DMD genetic modifiers and dilated cardiomyopathy
Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. This study aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and … [Read more]
Burden of disease in children with myotonic dystrophy
The frequency and impact of symptoms experienced by patients with congenital, childhood, and juvenile-onset myotonic dystrophy (CDM/ChDM/JDM) has not been documented. This report identifies symptomatic areas with the greatest disease burden in an international population of patients with early-onset myotonic dystrophy type-1 (DM1). Surveys were distributed to parents of patients with CDM/ChDM/JDM. Patients with CDM/ChDM/JDM … [Read more]
Novel non-neural dysfunctions and a wide phenotypic spectrum in spinal and bulbar muscular atrophy
In this study that aimed to conduct a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA), 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology. Creatine kinase levels were slightly to markedly … [Read more]
Identifying the underlying cause of autosomal recessive adolescent-onset distal myopathy
Distal myopathy is a heterogeneous group of muscle diseases characterized by predominant distal muscle weakness. In this study, four patients from two unrelated Korean families were evaluated with the aim of identifying the underlying cause of autosomal recessive adolescent-onset distal myopathy. To isolate the genetic cause, exome sequencing was performed. In vitro and in vivo … [Read more]
Expanding the clinical spectrum of hereditary fibrosing poikiloderma
Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, the authors identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. The aim of this study was to … [Read more]
Clinical, biochemical and molecular characteristics of 16 patients with AGAT deficiency
Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis. In this study, the authors performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical characteristics and long-term outcomes of this ultra-rare condition. A total of 16 patients from 8 families of 8 different ethnic … [Read more]
Intravenous immunoglobulin infusions are safe in the elderly
This retrospective study investigated the safety of intravenous immunoglobulin (IVIg) among consecutive elderly patients treated for neurological disorders. Correlation and relative risks were calculated for age, risk factors, IVIg course, daily dose, concentration, preparation, and duration of treatment. An infusion and monitoring protocol was applied. A total of 244 patients were reviewed including 62% aged … [Read more]
