Next Article in Journal
Cardiovascular Comorbidities in Chronic Obstructive Pulmonary Disease (COPD)—Current Considerations for Clinical Practice
Next Article in Special Issue
Diverse Action of Selected Statins on Skeletal Muscle Cells—An Attempt to Explain the Protective Effect of Geranylgeraniol (GGOH) in Statin-Associated Myopathy (SAM)
Previous Article in Journal
Sex Differences in the Relation between Waist Circumference within the Normal Range and Development of Reflux Esophagitis
Previous Article in Special Issue
Lipid Myopathies
jcm-logo
Article Menu

Article Menu

Article

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

1
Clinical Biochemistry, Pathology, Paediatric Neurology and Molecular Medicine Departments and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, 08950 Esplugues, Spain
2
Secció d’Errors Congènits del Metabolisme—IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER-ISCIII, 08028 Barcelona, Spain
3
Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide and CIBERER-ISCIII, 41013 Sevilla, Spain
4
Departamento de Bioquímica, Biología Molecular y Celular, Instituto de investigación Sanitaria de Aragón and CIBERER-ISCIII, Universidad de Zaragoza, 50013 Zaragoza, Spain
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2019, 8(1), 68; https://doi.org/10.3390/jcm8010068
Received: 30 November 2018 / Revised: 17 December 2018 / Accepted: 7 January 2019 / Published: 10 January 2019
(This article belongs to the Special Issue Advances in Metabolic Myopathies)
Mitochondrial diseases (MD) are a group of genetic and acquired disorders which present significant diagnostic challenges. Here we report the disease characteristics of a large cohort of pediatric MD patients (n = 95) with a definitive genetic diagnosis, giving special emphasis on clinical muscle involvement, biochemical and histopathological features. Of the whole cohort, 51 patients harbored mutations in nuclear DNA (nDNA) genes and 44 patients had mutations in mitochondrial DNA (mtDNA) genes. The nDNA patients were more likely to have a reduction in muscle fiber succinate dehydrogenase (SDH) stains and in SDH-positive blood vessels, while a higher frequency of mtDNA patients had ragged red (RRF) and blue fibers. The presence of positive histopathological features was associated with ophthalmoplegia, myopathic facies, weakness and exercise intolerance. In 17 patients younger than two years of age, RRF and blue fibers were observed only in one case, six cases presented cytochrome c oxidase (COX) reduction/COX-fibers, SDH reduction was observed in five and all except one presented SDH-positive blood vessels. In conclusion, muscle involvement was a frequent finding in our series of MD patients, especially in those harboring mutations in mtDNA genes. View Full-Text
Keywords: mitochondrial diseases; myopathy; pediatric patients; biochemical markers; muscle histopathology; next generation sequencing mitochondrial diseases; myopathy; pediatric patients; biochemical markers; muscle histopathology; next generation sequencing
Show Figures

Figure 1

MDPI and ACS Style

Jou, C.; Ortigoza-Escobar, J.D.; O’Callaghan, M.M.; Nascimento, A.; Darling, A.; Pias-Peleteiro, L.; Perez-Dueñas, B.; Pineda, M.; Codina, A.; Arjona, C.; Armstrong, J.; Palau, F.; Ribes, A.; Gort, L.; Tort, F.; Navas, P.; Ruiz-Pesini, E.; Emperador, S.; Lopez-Gallardo, E.; Bayona-Bafaluy, P.; Montero, R.; Jimenez-Mallebrera, C.; Garcia-Cazorla, A.; Montoya, J.; Yubero, D.; Artuch, R. Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease. J. Clin. Med. 2019, 8, 68. https://doi.org/10.3390/jcm8010068

AMA Style

Jou C, Ortigoza-Escobar JD, O’Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R. Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease. Journal of Clinical Medicine. 2019; 8(1):68. https://doi.org/10.3390/jcm8010068

Chicago/Turabian Style

Jou, Cristina, Juan D. Ortigoza-Escobar, Maria M. O’Callaghan, Andres Nascimento, Alejandra Darling, Leticia Pias-Peleteiro, Belén Perez-Dueñas, Mercedes Pineda, Anna Codina, César Arjona, Judith Armstrong, Francesc Palau, Antonia Ribes, Laura Gort, Frederic Tort, Placido Navas, Eduardo Ruiz-Pesini, Sonia Emperador, Ester Lopez-Gallardo, Pilar Bayona-Bafaluy, Raquel Montero, Cecilia Jimenez-Mallebrera, Angels Garcia-Cazorla, Julio Montoya, Delia Yubero, and Rafael Artuch. 2019. "Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease" Journal of Clinical Medicine 8, no. 1: 68. https://doi.org/10.3390/jcm8010068

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop