A Childhood Inflammatory Myopathy with Cytochrome Oxidase Deficiency: Which Came First, the Chicken or the Egg?

Basit Öğe Kaydı
dc.contributor.authorDiniz, Gulden
dc.contributor.authorYavascan, Onder
dc.contributor.authorSarkis, Umit Basak
dc.contributor.authorYildirim, Zubeyde
dc.contributor.authorAlparslan, Caner
dc.contributor.authorOzturk, Can
dc.contributor.authorBerdeli, Afig
dc.date.accessioned2024-08-31T07:46:40Z
dc.date.available2024-08-31T07:46:40Z
dc.date.issued2023
dc.departmentEge Üniversitesien_US
dc.description.abstractInflammatory myopathies are autoimmune disorders rarely seen in childhood. Normally high-dose corticosteroid is the current treatment for inflammatory myopathies. For a specific subgroup of patients with inflammatory myopathy with cytochrome oxidase (COX)-negative myofibers that do not typically respond to corticosteroid treatment, and methotrexate (MTX) is used for therapy. Herein we present a 10-year-old girl who initially received clinical diagnosis of juvenile inflammatory myopathy which did not respond to corticosteroid treatment. Examination of her muscle biopsy specimen showed the presence of COX-negative muscle fibers which are very rarely seen in childhood inflammatory myopathies, and she was diagnosed as inflammatory myopathy characterized with COX-negative myofibers. The patient, who recovered with MTX therapy underwent genetic examination 3 years after the treatment was terminated. The sequence analyses of mitochondrial DNA (mtDNA) identified 19 variants in the rRNA, ND2, ND4, ND5, COX1, COX3, and CytB genes of the mtDNA of the patient and her mother. These mutations generally induce the production of synonym amino acids. However, four missense mutations on the ND4, ATP6, and CytB genes have caused structural changes in amino acids. None of these mutations have been previously reported as pathogenic variants. We have thought that these variations in such essential genes might destabilize mtDNA and could probably affect the ATP synthesis in our patient. Our final diagnosis was established based on abnormal inflammatory response induced by a hereditary mtDNA defect in a child with mitochondrial myopathy, rather than an inflammatory myopathy with COX deficiency.en_US
dc.identifier.doi10.4274/jbuch.galenos.2023.45556
dc.identifier.endpage202en_US
dc.identifier.issn2822-4469
dc.identifier.issue3en_US
dc.identifier.startpage198en_US
dc.identifier.trdizinid1251565en_US
dc.identifier.urihttps://doi.org/10.4274/jbuch.galenos.2023.45556
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1251565
dc.identifier.urihttps://hdl.handle.net/11454/104166
dc.identifier.volume13en_US
dc.identifier.wosWOS:001189207200008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofJournal of Behcet Uz Childrens Hospitalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240831_Uen_US
dc.subjectChildhood Inflammatory Myopathyen_US
dc.subjectPolymyositis With Cox-Negative Myofibersen_US
dc.subjectAtp6 Synthase Geneen_US
dc.subjectNd4 Geneen_US
dc.subjectCytb Geneen_US
dc.subjectMitochondrial Myopathyen_US
dc.titleA Childhood Inflammatory Myopathy with Cytochrome Oxidase Deficiency: Which Came First, the Chicken or the Egg?en_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
TR-Dizin İndeksli Yayınlar Koleksiyonu