Cyclosporine A in Ullrich Congenital Muscular Dystrophy: Long-Term Results

Autor: Nadir M. Maraldi, Francesca Gualandi, Enrico Bertini, Paolo Bernardi, Alessandra Ferlini, M.E. Michelini, Luciano Merlini, A. Franchella, Paolo Grumati, Alessia Angelin, Saverio Gnudi, Annarita Armaroli, Patrizia Sabatelli, Paolo Bonaldo
Přispěvatelé: Merlini, Luciano, Sabatelli, Patrizia, Armaroli, Annarita, Gnudi, Saverio, Angelin, Alessia, Grumati, Paolo, Michelini, Maria Elena, Franchella, Andrea, Gualandi, Francesca, Bertini, Enrico, Maraldi, Nadir Mario, Ferlini, Alessandra, Bonaldo, Paolo, Bernardi, Paolo, Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, Michelini ME, Franchella A, Gualandi F, Bertini E, Maraldi NM, Ferlini A, Bonaldo P, Bernardi P.
Rok vydání: 2011
Předmět:
Male
Aging
respiratory muscles
Apoptosis
Biochemistry
Muscular Dystrophies
0302 clinical medicine
respiratory function
Collagen VI
Enzyme Inhibitor
Respiratory function
Enzyme Inhibitors
Respiratory system
Muscular dystrophy
Child
Muscular Dystrophie
Membrane Potential
Mitochondrial
0303 health sciences
lcsh:Cytology
motor function
General Medicine
Anatomy
Diaphragm (structural system)
Clinical trial
Child
Preschool
Cyclosporine
Female
Research Article
Human
medicine.medical_specialty
Article Subject
Ullrich congenital muscular dystrophy
Urology
Collagen Type VI
Biology
Cyclosporins
03 medical and health sciences
apoptotic
mitochondrial dysfunction
muscle rigeneration
medicine
Humans
Regeneration
Muscle Strength
lcsh:QH573-671
Muscle
Skeletal
030304 developmental biology
Sclerosis
Apoptosi
Cell Biology
medicine.disease
Mutation
Muscle strength
030217 neurology & neurosurgery
Zdroj: Oxidative Medicine and Cellular Longevity, Vol 2011 (2011)
Oxidative Medicine and Cellular Longevity
Oxidative Medicine and Cellular Longevity; Vol 2011
ISSN: 1942-0994
1942-0900
DOI: 10.1155/2011/139194
Popis: Six individuals with Ullrich congenital muscular dystrophy (UCMD) and mutations in the genes-encoding collagen VI, aging 5–9, received 3–5 mg/kg of cyclosporine A (CsA) daily for 1 to 3.2 years. The primary outcome measure was the muscle strength evaluated with a myometer and expressed as megalimbs. The megalimbs score showed significant improvement (P=0.01) in 5 of the 6 patients. Motor function did not change. Respiratory function deteriorated in all. CsA treatment corrected mitochondrial dysfunction, increased muscle regeneration, and decreased the number of apoptotic nuclei. Results from this study demonstrate that long-term treatment with CsA ameliorates performance in the limbs, but not in the respiratory muscles of UCMD patients, and that it is well tolerated. These results suggest considering a trial of CsA or nonimmunosuppressive cyclosporins, that retains the PTP-desensitizing properties of CsA, as early as possible in UCMD patients when diaphragm is less compromised.
Databáze: OpenAIRE
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