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Auteur DiMauro S
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DiMauro S, (Salvatore DiMauro), (Mauro (di) S), (Di Mauro S)
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International Journal of molecular sciences, 2019, 20, 22
Revue : International Journal of molecular sciences, 20, 22 Titre : A Brief History of Mitochondrial Pathologies Type de document : Article Auteurs : DiMauro S, Auteur Editeur : Switzerland Année de publication : 11/2019 Langues : Anglais (eng) Mots-clés : ADN mitochondrial ; article de synthèse ; diagnostic ; histoire de la médecine ; maladie mitochondriale Pubmed / DOI : Pubmed : 31718067 / DOI : 10.3390/ijms20225643 N° Profil MNM : 2019112 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31718067Garone C, Taylor RW, Nascimento A, et al.
Journal of medical genetics, 2018
Akman HO, Aykit Y, Amuk OC, et al.
Neuromuscular disorders : NMD, 2016, 26, 1, p 16
Revue : Neuromuscular disorders : NMD, 26, 1 Titre : Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1 Type de document : Article Auteurs : Akman HO, Auteur ; Aykit Y ; Amuk OC ; Malfatti E ; Romero NB ; Maioli MA ; Piras R ; DiMauro S ; Marrosu G Année de publication : 2016 Pages : p 16 Langues : Anglais (eng) Mots-clés : début tardif de la maladie ; examen clinique ; gène GYG1 ; glycogénine 1 ; histoenzymologie ; intron ; IRM ; Italie ; microscopie électronique ; mutation ponctuelle ; myopathie à inclusions de type 1 Pubmed / DOI : DOI : 10.1016/j.nmd.2015.10.012 / Pubmed : 26652229 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/26652229Ripolone 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/25844556DiMauro S, Hirano M
GeneReviews® [Internet], 2015
Revue : GeneReviews® [Internet] Titre : MERRF : Synonym: Myoclonic Epilepsy Associated with Ragged Red Fibers Type de document : Article Auteurs : DiMauro S ; Hirano M Année de publication : 29/01/2015 Langues : Anglais (eng) Mots-clés : article de synthèse ; cardiomyopathie dilatée ; classification des maladies ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; diagnostic moléculaire ; diagnostic prénatal ; examen clinique ; examen complémentaire ; grossesse ; kinésithérapie ; médecine physique et de réadaptation ; MERRF ; pharmacothérapie ; prévalence ; prise en charge thérapeutique Résumé : Initial Posting: June 3, 2003; Last Update: January 29, 2015.
MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized epilepsy, ataxia, weakness, and dementia. Onset is usually in childhood, occurring after normal early development. Common findings are hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. Pigmentary retinopathy and lipomatosis are occasionally observed.
The clinical diagnosis of MERRF is based on the following four "canonic" features: myoclonus, generalized epilepsy, ataxia, and ragged red fibers (RRF) in the muscle biopsy. The mitochondrial DNA (mtDNA) gene MT-TK encoding tRNALys is the gene most commonly associated with MERRF. The most common pathogenic variant, present in more than 80% of affected individuals with typical findings, is an A-to-G transition at nucleotide 8344 (m.8344A>G). Pathogenic variants in MT-TF, MT-TL1, MT-TI, and MT-TP have also been described in a subset of individuals with MERRF. Pathogenic variants are usually present in all tissues and are conveniently detected in mtDNA from blood leukocytes. However, the occurrence of "heteroplasmy" in disorders of mtDNA can result in varying tissue distribution of mutated mtDNA. Hence, in individuals having few symptoms consistent with MERRF or in asymptomatic maternal relatives of an affected individual, the pathogenic variant may be undetectable in mtDNA from leukocytes and may only be detected in other tissues, such as cultured skin fibroblasts, urinary sediment, oral mucosa, saliva, hair follicles, or (most reliably) skeletal muscle.
Treatment of manifestations: Conventional antiepileptic drugs for seizures; physical therapy to improve any impaired motor function; aerobic exercise; standard pharmacologic therapy for cardiac symptoms. Levetiracetam, clonazepam, zonisamide, and valproic acid (VPA) have been used to treat myoclonic epilepsy; however, VPA may cause secondary carnitine deficiency and should be avoided or used with L-carnitine supplementation.
Prevention of primary manifestations: Coenzyme Q10 (50-100 mg 3x/day) and L-carnitine (1000 mg 3x/day) are often used in hopes of improving mitochondrial function.
Surveillance: Routine evaluations every 6-12 months initially; annual neurologic, ophthalmologic, cardiology (electrocardiogram and echocardiogram), and endocrinologic evaluations (fasting blood sugar and TSH) evaluations.
Pregnancy management: During pregnancy, affected or at-risk women should be monitored for diabetes mellitus and respiratory insufficiency, which may require therapeutic interventions.
MERRF is caused by pathogenic variants in mtDNA and is transmitted by maternal inheritance. The father of a proband is not at risk for having the mtDNA pathogenic variant. The mother of a proband usually has the mtDNA pathogenic variant and may or may not have symptoms. A male with a mtDNA pathogenic variant cannot transmit the pathogenic variant to any of his offspring. A female with the pathogenic variant (whether affected or unaffected) transmits the pathogenic variant to all of her offspring. Prenatal diagnosis for MERRF is possible if an mtDNA pathogenic variant has been detected in the mother. However, because the mutational load in the mother's tissues and in the fetal tissues sampled (i.e., amniocytes and chorionic villi) may not correspond to that of other fetal tissues and because the mutational load in tissues sampled prenatally may shift in utero or after birth secondary to random mitotic segregation, prediction of the phenotype from prenatal studies is not possible.
Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301693Malfatti E, Nilsson J, Hedberg-Oldfors C, et al.
Annals of neurology, 2014, 76, 6, p 891
PermalinkNilsson J, Schoser B, Laforêt P, et al.
Annals of neurology, 2013, 74, 6, p 914
PermalinkOldfors A, DiMauro S
Current opinion in neurology, 2013, 26, 5, p. 544-553
PermalinkSugie K, Yamamoto A, Murayama K, et al.
Neurology, 2002, 58, 12, p 1773
PermalinkDesnuelle C, Di Mauro S
Springer-Verlag, 2002, 325 p
PermalinkMoraes CT, Ricci E, Petruzzella V, et al.
Nature genetics, 1992, 1, 5, p 359
PermalinkDiDonato S, DiMauro S, Mamoli A, et al.
Raven Press, 1988, 48, 268 p