Blog Archives
10 and 11 October, Science Fair at the Institute
This year, the Institute is participating in the 25th Science Fair and is organising a course on muscle: “MUSCLE IN ALL ITS STATES”. The event consists of workshops for all age groups and will be held in the Babinski building on Monday, October 10 from 14:00 to 17:00 and Tuesday, October 11th from 9:00 to … [Read more]
Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing
A short abnormal polyalanine expansion in the polyadenylate-binding protein nuclear-1 (PABPN1) protein causes oculopharyngeal muscular dystrophy (OPMD). Mutated PABPN1 proteins accumulate as insoluble intranuclear aggregates in muscles of OPMD patients. While the roles of PABPN1 in nuclear polyadenylation and regulation of alternative poly(A) site choice have been established, the molecular mechanisms which trigger pathological defects … [Read more]
EXONDYS 51™ (eteplirsen) authorised in the US
EXONDYS 51™ (eteplirsen), a therapy aimed at skipping exon 51 of the DMD gene involved in Duchenne muscular dystrophy (DMD), has received accelerated approval in the United States. Sarepta Therapeutics announced on Monday, September 19, 2016, that the US drug agency (Food and Drug Administration or FDA) has granted marketing authorisation (MA) for EXONDYS 51™ … [Read more]
Identification of potential underlying risk factors for premature death in Duchenne muscular dystrophy: focus on North East England.
This retrospective case note reviewed mortality in DMD patients in North East England over the last 10 years. It aimed to identify potential underlying risk factors for premature death and improve clinical care. Two groups of patients were identified: patients who died from underlying cardiac and/or respiratory failure (group 1) and patients who died unexpectedly … [Read more]
Launch of the 30th Telethon in the Baltard Pavilion
On Saturday, September 17, nearly 1,500 people visited the Baltard Pavillon to attend the national launch of Telethon 2016. This day was an opportunity to discover or rediscover the ambassador families of the 30th Telethon. Volunteers and researchers, including Antoine Muchir from the Institute of Myology, always true to his commitment, were with the families … [Read more]
Cystatin C is associated with cardiac dysfunction in DMD patients
Patients with Duchenne muscular dystrophy (DMD) develop dilated cardiomyopathy and are at risk for kidney injury. Creatinine based estimated glomerular filtration rate (eGFR) is limited by low muscle mass with low serum creatinine levels in DMD. Here, the authors assessed the relationship between cardiac function, modified Schwartz eGFR and cystatin C eGFR in patients with … [Read more]
Myotonic dystrophy type 1 and compliance with non-invasive ventilation
This study evaluated compliance with non-invasive ventilation in patients with myotonic dystrophy type 1 and identified predictors of cessation at 5 years in a cohort of patients followed in a specialist center for Neuromuscular Diseases in France. Mechanical ventilation in these patients poses a very strong challenge to caregivers. Factors predicting relative compliance were identified … [Read more]
Abnormal distribution of GABAA receptors in the brain of DMD patients
In this study that included 14 DMD patients [young adults (n=7, 18-25 year-old and older adults (n=7, 30-37 year-old) groups] and 16 age-matched normal volunteers, the autgors aimed to determine the distribution of GABAA receptors (GABAA -Rs) in the brain of Duchenne muscular dystrophy (DMD) patients and to ascertain if the distribution pattern correlates with … [Read more]
A microscaled in vitro model of muscle regeneration may predict efficacy of new therapies aimed at restoring dystrophin
Results of ongoing preclinical and clinical trials suggest that partial restoration of dystrophin might be sufficient to significantly reduce muscle damage. Different myogenic progenitors are candidates for cell therapy of muscular dystrophies, but only satellite cells and pericytes have already entered clinical experimentation. This study aimed to provide in vitro quantitative evidence of the ability … [Read more]
Beneficial effects of subcutaneous immunoglobulin therapy in the chronic management of myasthenia gravis
Immunoglobulin therapy has become a major treatment option in several autoimmune neuromuscular disorders. For patients with Myasthenia Gravis (MG), intravenous immunoglobulin (IVIg) has been used for both crisis and chronic management. Subcutaneous Immunoglobulins (SCIg), which offer the advantage of home administration, may be a practical and effective option in chronic management of MG. In this … [Read more]
