Blog Archives

Duchenne muscular dystrophy (DMD), the most common inherited muscular dystrophy of childhood, leads to death due to cardiorespiratory failure. Paradoxically, mdx mice with the same genetic deficiency of dystrophin exhibit minimal cardiac dysfunction, impeding the development of therapies. Herein the authors postulated that the difference between mdx and DMD might result from differences in telomere … [Read more]

DART Therapeutics Inc., an innovative, new-model biotechnology firm focused on developing therapies for Duchenne muscular dystrophy (DMD), has initiated a phase 1b/2a study of its lead drug candidate, HT-100 (delayed-release halofuginone). The phase 1b study (with a six-month 2a extension) in patients will determine the safety and tolerability of different, increasing doses of HT-100, and … [Read more]

Salbutamol is a selective B2-adrenergic agonist, which has previously been described to be associated with partial improvement of myasthenia gravis and congenital myasthenic syndromes (CMS). In this study, the effect of salbutamol in five patients with Dok-7 CMS was analysed. Five patients (2 males and 3 females), with a mean age of 27±11.06years, who harboured … [Read more]

Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder caused by mutations in the laminin-α2 gene (OMIM: 607855). Currently, no treatment other than palliative care exists for this disease. In previous work from the authors, genetic interventions in the Lama2Dy-w mouse model for MDC1A demonstrated that limited regeneration and uncontrolled apoptosis are … [Read more]

Mutations in FKRP gene are associated with a wide range of muscular dystrophies from mild limb-girdle muscular dystrophy (LGMD) 2I to severe Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The characteristic biochemical feature of these diseases is the hypoglycosylation of α-dystroglycan (α-DG). Currently there is no effective treatment available. In this study the Adeno-associated virus … [Read more]

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, what triggers muscle defect and when alteration arises remains obscure. To gain further insights into the molecular mechanisms of the disease, … [Read more]

Dysferlinopathies are caused by mutations in the DYSF gene. Dysferlin is a protein mainly expressed in skeletal muscle and monocytes. Cell therapy constitutes a promising tool for the treatment of muscular dystrophies. The aim of this study was to evaluate the effect of bone marrow transplantation (BMT) using the A/J Dysfprmd mouse model of dysferlinopathy. … [Read more]

Charcot-Marie-Tooth disease (CMT) comprises a clinically and genetically heterogeneous group of peripheral neuropathies characterized by progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. Following the analysis of two consanguineous families affected by a medium to late-onset recessive form of intermediate CMT, the authors of the present study identified overlapping regions of … [Read more]

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative disorder presenting with insidious onset of weakness in bulbar and limb muscles. Information regarding long-term clinical and functional progression has been limited, especially for the Taiwanese population. This study aimed to investigate early diagnosis and long-term prognosis of SBMA. The … [Read more]

In this study, the authors aimed to identify the genetic cause of an autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4B (CMT4B) family in 14 members of a Korean family. Three individuals had demyelinating CMT4B phenotype and obtained distal sural nerve biopsies from all affected participants. Exome sequencing was performed on 6 samples (3 affected and … [Read more]