Molecular Basis and Translational Research in Metabolic Myopathies: A Themed Issue in Honor of Professor Corrado Angelini
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Biology".
Deadline for manuscript submissions: 30 June 2024 | Viewed by 14610
Special Issue Editors
Interests: neuromuscular diseases; muscular dystrophies; metabolic myopathies; protein expression; muscle biopsy
Interests: NLSD-M; NLSD-I
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Metabolic myopathies are genetic disorders regarding the utilization of carbohydrates or fat in muscles. Glycogen-storage diseases and fatty acid transport and oxidation defects represent two of the main classes of these defects. In some, the acute nature of energy failure is manifested by a metabolic crisis with muscle weakness, cramps, myalgias sometimes associated by myoglobinuria with normal interictal examination. A typical disorder where permanent muscle weakness occurs is glycogenosis type II (GSDII) or Pompe disease. Pompe disease is caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA) due to different mutations in infantile and late onset Pompe disease. Enzyme replacement therapy (ERT) with recombinant human alpha-glucosidase has led to improvement of cardiac function in infants, although there is still central nervous system impairment, since the recombinant GAA does not cross the blood–brain barrier. A new preparation of ERT using recombinant GAA enriched with mannose and the concomitant use of chaperons is currently under study. Danon disease is a rare cardiac and skeletal muscle disorder caused by lysosome-associated membrane protein 2 mutations and presenting with systemic symptoms of cardiomyopathy, skeletal myopathy, and intellectual disability. Pompe and Danon disease are two autophagic vacuolar myopathies, that are characterized by the presence of large glycogen-filled lysosomes in the skeletal muscle. While autophagy impairment contributes to disease progression in GSD2 and Danon disease, the mechanism that leads to autophagy inhibition remains unknown. Reactivation of autophagy in Pompe patients by exercise and other signalling factors is a possible therapeutic action to ameliorate the long standing glycogen deposition. Secondary events such as dysregulation of calcium homeostasis, oxidative stress and mitochondrial abnormalities all may contribute to tissue damage in lysosomal storage diseases.
The pathogenetic mechanism of muscle impairment is completely unknown for some metabolic myopathies, e.g., Neutral Lipid Storage Disease with Myopathy and Neutral Lipid Storage Disease with Ichthyosis and, for this reason, drug therapy is not available yet.
The Special Issue “Molecular basis and translational research in metabolic myopathies: a themed issue in honour of Professor Corrado Angelini” aims to highlight recent advances in our understanding of preclinical and clinical knowledge on the mechanisms of disease pathogenesis and progression in glycogen-storage and lipid-storage myopathies with the aim to discover the most critical pathways and how to reactivate them in order to optimise treatment and stop disease progression. This Special Issue of Biomolecules will focus on novel findings on the molecular players and mechanisms involved in pathophysiology of glycogen and lipid metabolic myopathies. This will include experimental studies in animal models and innovative cellular models, like induced pluripotent stem cells (iPSCs) and also specific therapeutic treatments. Novel diagnostic tools and dietary or innovative strategies on characterizing gene expressions involved in such diseases are welcome.
We look forward to receiving your contribution.
Dr. Marija Meznaric
Prof. Dr. Daniela Tavian
Dr. Sara Missaglia
Guest Editors
Manuscript Submission Information
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Keywords
- metabolic myopathies
- lipid metabolism
- glycogen metabolism
- genetic diseases
- treatments
- lipid storage myopathies
- glycogen storage myopathies
- lysosomal storage myopathies
Planned Papers
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Title: Biomolecules of muscle fatigiue in Metabolic Myopathies
Authors: Gabriele Siciliano, Francesca Torri, Erika Schirinzi, Giulia Ricci,
Affiliation: University of Pisa, Pisa (I)
Title: History and perspective of LAMP-2 deficiency (Danon disease)
Authors: Kazuma Sugie and Ichizo Nishino
Affiliation: National Institute of Neuroscience, National Center of Neurology and Psychiatry(NCNP), 4-1-1 ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan
Title: Failure of autophagy in Pompe disease
Authors: Hung Do, Naresh K. Meena, Nina Raben
Affiliation: M6P Therapeutics, St. Louis, MO