Enhanced oral uptake of exosomes opens cell therapy alternative
(Cedars-Sinai Medical Center) Cell-derived exosomes are effective in treating disease when mixed with the dominant protein in breast milk and given orally, a new Smidt Heart Institute study of laboratory mice shows. The findings, published in the peer-reviewed Journal of Extracellular Vesicles, could help develop new oral medications for treating patients with muscular dystrophy and heart failure.
We report a case of a 30-year-old man who presented with advanced heart failure secondary to dilated cardiomyopathy. The patient was diagnosed with limb girdle muscular dystrophy type 2B (LGMD2B), a rare autosomal recessive disease. Cardiomyopathy is only rarely described in dysferlinopathies.
Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive skeletal myopathy as well as a cardiomyopathy. Historically, it is reported that patients with DMD/BMD experience significant morbidity/mortality as a result of rhythm abnormalities. However, natural history data is limited regarding the specific mode of death, e.g. heart failure vs. sudden cardiac death vs. non-cardiac death. We identified 82 patients at our institution to analyze retrospectively (67 DMD/15 BMD). Average age was 21 (range 10-38) years.
Authors: Lamendola P, Lanza GA, Melita V, Villano A, Palermo C, Leone D, Lombardo A, Pennestrì F, Crea F, Mercuri EM, Pane M Abstract OBJECTIVE: Duchenne muscular dystrophy (DMD) is an inherited X-linked recessive neuromuscular disease caused by mutations of the dystrophin gene, leading to early and progressive muscle deterioration and dilated cardiomyopathy. The aim of this investigation was to assess whether treatment with sacubitril/valsartan (S/V) is well tolerated and may have beneficial effects in DMD patients with left ventricle (LV) dysfunction. PATIENTS AND METHODS: We administered S/V to 3 DMD ...
ConclusionsFinerenone administered as a monotherapy is disease modifying for both skeletal muscle and heart in a preclinical DMD model. These findings support further evaluation of finerenone in DMD clinical trials.
Duchenne muscular dystrophy (DMD; MIM No.310200) is the most common inherited muscle disease, estimated to affect approximately 1 out of 3,500 to 5,000 male newborns.1,2 It is a fatal disease diagnosed in childhood and characterized by progressive muscle wasting caused by a mutation in the DMD gene. Affected individuals commonly lose their ability to walk around 10 years after beginning to walk in infancy.3,4 Patients with DMD have multiple complications, of which cardiomyopathy and resultant heart failure is the most common cause of morbidity and mortality.
We describe the case of an 18‐year‐old male patient, affected by DMD and in a wheelchair from the age of 11. He progressively developed dilated cardiomyopathy, and in 2016, at the age of 14 years, he underwent HeartWare LVAD implantation, as destination therapy, without post‐operative complications. He has been followed up for 47 consecutive months; and 30 months after LVAD implantation, he developed an infection of the exit site, treated by antibiotics and surgical toilette. Following this event, on the basis of patient's good general conditions and willingness, we started to consider heart transplant as a...
Yokota Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive condition caused primarily by out-of-frame mutations in the dystrophin gene. In males, DMD presents with progressive body-wide muscle deterioration, culminating in death as a result of cardiac or respiratory failure. A milder form of DMD exists, called Becker muscular dystrophy (BMD), which is typically caused by in-frame dystrophin gene mutations. It should be emphasized that DMD and BMD are not exclusive to males, as some female dystrophin mutation carriers do present with similar symptoms, generally at reduced levels of severity. Cardiac involve...
Duchenne muscular dystrophy (DMD) is a devastating and fatal disease affecting ~1 in 3500 boys with dystrophin gene mutations [1,2]. Dystrophin plays important roles in sarcolemma stability and cell signaling in skeletal, smooth, and cardiac muscles [1,2]. DMD patients often die at a young age from dilated cardiomyopathy (DCM) or respiratory dysfunction. The use of ventilators has reduced respiratory failure in DMD patients and DCM associated heart failure (HF) is now a major cause of DMD patient death [1,2].
This article reviews the diagnosis and treatment of heart disease in Duchenne muscular dystrophy as well as emerging therapies.
Alterations in intracellular Na+ and Ca2+ have been observed in patients with Duchenne muscular dystrophy (DMD) and in animal models of DMD, and inhibition of Na+-H+ exchanger 1 (NHE1) by rimeporide has previously demonstrated cardioprotective effects in animal models of myocardial ischemia and heart failure. Since heart failure is becoming a predominant cause of death in DMD patients, this study aimed to demonstrate a cardioprotective effect of chronic administration of rimeporide in a canine model of DMD.