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Auteur Balottin U
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Ripolone M, Ronchi D, Violano R, et al.
JAMA neurology, 2015, Epub
Revue : JAMA neurology, Epub Titre : Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy. Type de document : Article Auteurs : Ripolone M ; Ronchi D ; Violano R ; Vallejo D ; Fagiolari G ; Barca E ; Lucchini V ; Colombo I ; Villa L ; Berardinelli A ; Balottin U ; Morandi L ; Mora M ; Bordoni A ; Fortunato F ; Corti S ; Parisi D ; Toscano A ; Sciacco M ; DiMauro S ; Comi GP ; Moggio M Année de publication : 06/04/2015 Langues : Anglais (eng) Résumé : Importance: The important depletion of mitochondrial DNA (mtDNA) and the general depression of mitochondrial respiratory chain complex levels (including complex II) have been confirmed, implying an increasing paucity of mitochondria in the muscle from patients with types I, II, and III spinal muscular atrophy (SMA-I, -II, and -III, respectively).
Objective: To investigate mitochondrial dysfunction in a large series of muscle biopsy samples from patients with SMA.
Design, Setting, and Participants: We studied quadriceps muscle samples from 24 patients with genetically documented SMA and paraspinal muscle samples from 3 patients with SMA-II undergoing surgery for scoliosis correction. Postmortem muscle samples were obtained from 1 additional patient. Age-matched controls consisted of muscle biopsy specimens from healthy children aged 1 to 3 years who had undergone analysis for suspected myopathy. Analyses were performed at the Neuromuscular Unit, Istituto di Ricovero e Cura a Carattere Scientifico Foundation Ca' Granda Ospedale Maggiore Policlinico-Milano, from April 2011 through January 2015.
Exposures: We used histochemical, biochemical, and molecular techniques to examine the muscle samples.
Main Outcomes and Measures: Respiratory chain activity and mitochondrial content.
Results: Results of histochemical analysis revealed that cytochrome-c oxidase (COX) deficiency was more evident in muscle samples from patients with SMA-I and SMA-II. Residual activities for complexes I, II, and IV in muscles from patients with SMA-I were 41%, 27%, and 30%, respectively, compared with control samples (P?.005). Muscle mtDNA content and cytrate synthase activity were also reduced in all 3 SMA types (P?.05). We linked these alterations to downregulation of peroxisome proliferator-activated receptor coactivator 1?, the transcriptional activators nuclear respiratory factor 1 and nuclear respiratory factor 2, mitochondrial transcription factor A, and their downstream targets, implying depression of the entire mitochondrial biogenesis. Results of Western blot analysis confirmed the reduced levels of the respiratory chain subunits that included mitochondrially encoded COX1 (47.5%; P?=?.004), COX2 (32.4%; P?.001), COX4 (26.6%; P?.001), and succinate dehydrogenase complex subunit A (65.8%; P?=?.03) as well as the structural outer membrane mitochondrial porin (33.1%; P?.001). Conversely, the levels of expression of 3 myogenic regulatory factors-muscle-specific myogenic factor 5, myoblast determination 1, and myogenin-were higher in muscles from patients with SMA compared with muscles from age-matched controls (P?.05).
Conclusions and Relevance: Our results strongly support the conclusion that an altered regulation of myogenesis and a downregulated mitochondrial biogenesis contribute to pathologic change in the muscle of patients with SMA. Therapeutic strategies should aim at counteracting these changes.
Pubmed / DOI : DOI : 10.1001/jamaneurol.2015.0178 / Pubmed : 25844556 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/25844556
Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study.Magliano L, D'Angelo MG, Vita G, et al.
Acta myologica, 2014, 33, 3, p. 136-143
Revue : Acta myologica, 33, 3 Titre : Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study. Type de document : Article Auteurs : Magliano L ; D'Angelo MG ; Vita G ; Pane M ; D'Amico A ; Balottin U ; Angelini C ; Battini R ; Politano L ; Patalano M ; Sagliocchi A ; Civati F ; Brighina E ; Vita GL ; Messina S ; Sframeli M ; Lombardo ME ; Scalise R ; Colia G ; Catteruccia M ; Berardinelli A ; Motta MC ; Gaiani A ; Semplicini C ; Bello L ; Astrea G ; Zaccaro A ; Scutifero M Année de publication : 12/2014 Pages : p. 136-143 Langues : Anglais (eng) Mots-clés : accompagnement psychologique ; dystrophie musculaire de Becker ; dystrophie musculaire de Duchenne ; enfant handicapé ; étude transversale ; fratrie ; parent ; participation sociale ; poids de la maladie ; questionnaire ; vie sociale Pubmed / DOI : Pubmed : 25873782 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/25873782
Burden, professional support, and social network in families of children and young adults with muscular dystrophies.Magliano L, Patalano M, Sagliocchi A, et al.
Muscle & Nerve, 2014, Epub
"I have got something positive out of this situation" : psychological benefits of caregiving in relatives of young people with muscular dystrophyMagliano L, Patalano M, Sagliocchi A, et al.
Journal of neurology, 2014, 261, 1, p. 188-195
Revue : Journal of neurology, 261, 1 Titre : "I have got something positive out of this situation" : psychological benefits of caregiving in relatives of young people with muscular dystrophy Type de document : Article Auteurs : Magliano L ; Patalano M ; Sagliocchi A ; Scutifero M ; Zaccaro A ; D'Angelo MG ; Civati F ; Brighina E ; Vita G ; Vita GL ; Messina S ; Sframeli M ; Pane M ; Lombardo ME ; Scalise R ; D'Amico A ; Colia G ; Catteruccia M ; Balottin U ; Berardinelli A ; Motta MC ; Angelini C ; Gaiani A ; Semplicini C ; Bello L ; Battini R ; Astrea G ; Ricci G ; Politano L Année de publication : 2014 Pages : p. 188-195 Langues : Anglais (eng) Mots-clés : accompagnement psychologique ; adolescent ; aidant familial ; comportement ; dystrophie musculaire ; dystrophie musculaire de Becker ; dystrophie musculaire de Duchenne ; dystrophie musculaire des ceintures ; enfant ; étude transversale ; jeune adulte ; relation malade famille ; représentation mentale ; vie socialeBerardinelli A, Fagiolari G, Vallejo D, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 175
Titre : Histochemical definition of oxidative defects in 20 genetically-determined SMA cases (poster) Type de document : Article Auteurs : Fagiolari G ; Vallejo D ; Lucchini V ; Bordoni A ; Lamperti C ; Ripolone M ; Corti S ; Balottin U ; Bresolin N ; Comi GP ; Sciacco M ; Moggio M Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) Année de publication : 2011 Pages : p. 175 Langues : Anglais (eng) Mots-clés : colloque Résumé : Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of spinal cord anterior horn presenting with weakness and muscular atrophy. It is caused by mutations in SMN1 gene (Brahe C. 2001) and it is transmitted as an autosomal recessive disorder (Engel A.G. 2004). Based on age of onset and clinical course, patients can be divided into three main groups (type I, II and III). Severe depletion of mitochondrial DNA is reported in patients affected with SMA and it is considered a consequence of important fiber atrophy (Berger A. 2003). Defects of the mitochondrial respiratory chain complexes are also reported, but their pathogenic significance is unclear.On this basis, we made a systematic revision of our collection of 20 genetically-determined SMA skeletal muscle samples and we decided to investigate the oxidative defect from a morphological point of view. In detail, we studied 9 type I, 4 type II and 7 type III SMA samples.Besides routine histological and histochemical reactions, we performed histochemistry for COX, SDH, and combined COX/SDH stains.In all patients, skeletal muscle biopsy showed a chronic neurogenic pattern, with groups of atrophic fibers and fiber type grouping. In addition, variable, but unequivocal COX deficiency was evident in almost all samples, being very severe in SMA 1 ones, where the enzymatic activity was totally lacking. In all specimens, the enzymatic defect was evident in both atrophic and normal/hypertrophic fibers. No histochemical defect was found in healthy control muscles and in skeletal muscle samples from patients with chronic neurogenic disorders.Quantitative mtDNA studies are underway.Our data show that histochemical COX deficiency is a common finding in skeletal muscle from SMA patients. We found a correlation between severity of the oxidative defect and both age of patients and disease onset/duration. However, we found no correlation between denervation and COX-deficiency for two main reasons: first, both normal-sized and hypertrophic muscle fibers were also COX-deficient in SMA patients; second, we found no enzymatic defect in skeletal muscles from patients with non-SMA neurogenic atrophy. Our findings support the hypothesis that mitochondrial dysfunction could play a role in the pathogenesis of the disease.Berardinelli A, Orcesi S, Rossi M, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 88
PermalinkLanzi G, Balottin U, Borgatti R, et al.
Child's nervous system, 1993, 9, p. 339-342
PermalinkLanzi G, Balottin U
Child's nervous system, 1993, 9, p. 339-342
PermalinkLanzi G, Besana D, Balottin U, et al.
Acta cardiomiologica, 1991, 3, 1, p. 17-34