Mitochondrial dysfunction in oculopharyngeal muscular dystrophy

2017 ◽  
Vol 27 ◽  
pp. S203
Author(s):  
T. Doki ◽  
S. Yamashita ◽  
F. Wei ◽  
X. Zhang ◽  
Z. Zhang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mitochondrial Dysfunction ◽  
Oculopharyngeal Muscular Dystrophy

scholarly journals Mitochondrial Dysfunction Reveals the Role of mRNA Poly(A) Tail Regulation in Oculopharyngeal Muscular Dystrophy Pathogenesis

PLoS Genetics ◽  
2015 ◽  
Vol 11 (3) ◽  
pp. e1005092 ◽  
Author(s):  
Aymeric Chartier ◽  
Pierre Klein ◽  
Stéphanie Pierson ◽  
Nicolas Barbezier ◽  
Teresa Gidaro ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mitochondrial Dysfunction ◽  
Oculopharyngeal Muscular Dystrophy

Mitochondrial dysfunction in the pathogenesis of oculopharyngeal muscular dystrophy

2016 ◽  
Vol 26 ◽  
pp. S140
Author(s):  
T. Doki ◽  
S. Yamashita ◽  
Z. Zhang ◽  
X. Zhang ◽  
N. Tawara ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Mitochondrial Dysfunction ◽  
Oculopharyngeal Muscular Dystrophy

Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy

2001 ◽  
Vol 21 (1) ◽  
pp. 45-52 ◽  
Author(s):  
Ralf Schober ◽  
Wolfram Kress ◽  
Friedrich Grahmann ◽  
Steffen Kellermann ◽  
Petra Baum ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Triplet Expansion

Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

1996 ◽  
Vol 6 (3) ◽  
pp. 163-166 ◽  
Author(s):  
Kum Thong Wong ◽  
David Dick ◽  
Janice R. Anderson
Keyword(s):  
Muscular Dystrophy ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Mitochondrial Abnormalities

scholarly journals The Interplay of Mitophagy and Inflammation in Duchenne Muscular Dystrophy

Life ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 648
Author(s):  
Andrea L. Reid ◽  
Matthew S. Alexander
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mitochondrial Dysfunction ◽  
Disease Onset ◽  
Exon Skipping ◽  
Dystrophin Gene ◽  
Muscle Disease ◽  
Mitochondrial Morphology ◽  
Gene Therapies ◽  
Dystrophin Protein

Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by a pathogenic disruption of the DYSTROPHIN gene that results in non-functional dystrophin protein. DMD patients experience loss of ambulation, cardiac arrhythmia, metabolic syndrome, and respiratory failure. At the molecular level, the lack of dystrophin in the muscle results in myofiber death, fibrotic infiltration, and mitochondrial dysfunction. There is no cure for DMD, although dystrophin-replacement gene therapies and exon-skipping approaches are being pursued in clinical trials. Mitochondrial dysfunction is one of the first cellular changes seen in DMD myofibers, occurring prior to muscle disease onset and progresses with disease severity. This is seen by reduced mitochondrial function, abnormal mitochondrial morphology and impaired mitophagy (degradation of damaged mitochondria). Dysfunctional mitochondria release high levels of reactive oxygen species (ROS), which can activate pro-inflammatory pathways such as IL-1β and IL-6. Impaired mitophagy in DMD results in increased inflammation and further aggravates disease pathology, evidenced by increased muscle damage and increased fibrosis. This review will focus on the critical interplay between mitophagy and inflammation in Duchenne muscular dystrophy as a pathological mechanism, as well as describe both candidate and established therapeutic targets that regulate these pathways.

Urolithin A improves muscle function by inducing mitophagy in muscular dystrophy

2021 ◽  
Vol 13 (588) ◽  
pp. eabb0319
Author(s):  
Peiling Luan ◽  
Davide D’Amico ◽  
Pénélope A. Andreux ◽  
Pirkka-Pekka Laurila ◽  
Martin Wohlwend ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscular Dystrophy ◽  
Mitochondrial Dysfunction ◽  
Muscle Function ◽  
Experimental Models ◽  
Muscle Stem Cells ◽  
Expression Of Genes ◽  
Primary Myoblasts ◽  
Urolithin A ◽  
Regenerative Ability

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy, and despite advances in genetic and pharmacological disease-modifying treatments, its management remains a major challenge. Mitochondrial dysfunction contributes to DMD, yet the mechanisms by which this occurs remain elusive. Our data in experimental models and patients with DMD show that reduced expression of genes involved in mitochondrial autophagy, or mitophagy, contributes to mitochondrial dysfunction. Mitophagy markers were reduced in skeletal muscle and in muscle stem cells (MuSCs) of a mouse model of DMD. Administration of the mitophagy activator urolithin A (UA) rescued mitophagy in DMD worms and mice and in primary myoblasts from patients with DMD, increased skeletal muscle respiratory capacity, and improved MuSCs’ regenerative ability, resulting in the recovery of muscle function and increased survival in DMD mouse models. These data indicate that restoration of mitophagy alleviates symptoms of DMD and suggest that UA may have potential therapeutic applications for muscular dystrophies.

scholarly journals Miogenic ptosis in oculopharyngeal muscular dystrophy

2016 ◽  
Vol 75 (1) ◽  
Author(s):  
Hellen Cristina Paraguassu Macedo ◽  
José Ricardo Mouta Araújo ◽  
Roberto Freitas de Castro Leão ◽  
Gabriel Ângelo Ribeiro da Silva ◽  
Caroline Galvão Leite
Keyword(s):  
Muscular Dystrophy ◽  
Oculopharyngeal Muscular Dystrophy
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