Blog Archives
Largest genetic study of idiopathic inflammatory myopathies
The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and extramuscular manifestations such as skin rashes and interstitial lung disease. Herein, the authors genotyped 2566 IIM cases of Caucasian descent using the Immunochip; a custom array covering 186 established autoimmune susceptibility loci. The cohort was predominantly comprised … [Read more]
Phase I/II clinical trial of a recombinant AAV vector expressing acid alpha-glucosidase in Pompe Disease
A recombinant serotype 9 adeno-associated virus (rAAV9) vector carrying a transgene that expresses codon-optimized human acid alpha-glucosidase (hGAA, or GAA) driven by a human desmin (DES) promoter (i.e., rAAV9-DES-hGAA) is being developed as a treatment for both early- and late-onset Pompe disease. In Pompe disease, patients lack sufficient lysosomal alpha-glucosidase leading to glycogen accumulation. In … [Read more]
A novel DMD mouse model carrying the most frequent exon duplication
Exon duplication mutations account for up to 11% of all cases of Duchenne muscular dystrophy (DMD), and a duplication of exon 2 is the most common duplication in patients. For use as a platform for testing of duplication-specific therapies, the authors of the present study developed a mouse model that carries a Dmd exon 2 … [Read more]
Desmin inclusion and myofibrillar disruption in an LGMD1D mouse model
Limb-girdle muscular dystrophy type 1D (LGMD1D) is caused by dominantly inherited missense mutations in DNAJB6, an Hsp40 co-chaperone. LGMD1D muscle has rimmed vacuoles and inclusion bodies containing DNAJB6, Z-disc proteins and TDP-43. DNAJB6 is expressed as two isoforms; DNAJB6a and DNAJB6b. Both isoforms contain LGMD1D mutant residues and are expressed in human muscle. To identify … [Read more]
Skin biopsies and morphologic abnormalities in CMT disease
In this study, the authors evaluated, by skin biopsy, dermal nerve fibers in 31 patients with 3 common Charcot-Marie-Tooth (CMT) genotypes and rarer forms of CMT caused by mutations in RAB7 and GDAP1 genes. Axonal loss examinations revealed that the density of both Meissner corpuscles and intrapapillary myelinated endings was reduced in skin samples from … [Read more]
A new step forward to gene-medicine for AFM-Telethon : to produce and cure
AFM-Telethon has decided to take up a new challenge: to produce gene-medicines from innovative biotherapies developed in the laboratories part of its Biotherapies Institute for Rare Diseases at an industrial scale, and to give patients suffering from rare genetic diseases access to them at a fair and contained price. With this in view, the association … [Read more]
Myotonic dystrophies: call for proposals for strategic translational projects
Launch of a call for proposals for strategic translational projects in myotonic dystrophies The AFM-Telethon is launching a call for proposals for strategic translational projects dedicated to the development of new therapies for myotonic dystrophy. The call for proposals will be launched on October 15, 2015. The deadline for submitting applications is December 18, 2015. … [Read more]
Dr Edoardo Malfatti awarded “Young Myologist of the Year” at the WMS Congress 2015
Dr Edoardo Malfatti, Neurologist at the Morphological Unit of the Institute, has been awarded with the President’s Prize for the “Young Myologist of the Year” at the World Muscle Society International Congress held in Brighton, UK, from the 30th to the 4th of October 2015. This prestigious award has been attributed to Dr Malfatti thank … [Read more]
Efficacy of combined cell and gene therapy in a murine model of merosin-deficient congenital muscular dystrophy type 1A
Merosin-deficient congenital muscular dystrophy type-1A (MDC1A) is characterised by progressive muscular dystrophy and dysmyelinating neuropathy caused by mutations of the α2 chain of laminin-211, the predominant laminin isoform of muscles and nerves. MDC1A has no available treatment so far, although preclinical studies showed amelioration of the disease by the overexpression of miniagrin (MAG). MAG reconnects … [Read more]
Effect of modified antisense oligonucleotides on DM1 skeletal muscle
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults. DM1 is caused by an expanded CTG repeat in the 3′- untranslated region of DMPK, the gene encoding Dystrophia Myotonica-Protein Kinase. ASOs containing constrained ethyl-modified (cEt) residues exhibit significantly increased RNA binding affinity and in vivo potency relative to those … [Read more]
