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Title: Pathological Features in Paediatric Patients with TK2 Deficiency
Author: Jou, Cristina
Nascimento, Andres
Codina, Anna
Montoya, Julio
López-Gallardo, Ester
Emperador, Sonia
Ruiz-pesini, Eduardo
Montero, Raquel
Natera-de Benito, Daniel
Ortez, Carlos I.
Marquez, Jesus
Zelaya, Maria V.
Gutierrez-mata, Alfonso
Badosa, Carmen
Carrera-García, Laura
Expósito-escudero, Jesica
Roldán, Monica
Camara, Yolanda
Marti, Ramon
Ferrer, Isidre
Jimenez-mallebrera, Cecilia
Artuch Iriberri, Rafael
Keywords: ADN mitocondrial
Mitochondrial DNA
Issue Date: 20-Sep-2022
Publisher: MDPI AG
Abstract: Thymidine kinase (TK2) deficiency causes mitochondrial DNA depletion syndrome. We aimed to report the clinical, biochemical, genetic, histopathological, and ultrastructural features of a cohort of paediatric patients with TK2 deficiency. Mitochondrial DNA was isolated from muscle biopsies to assess depletions and deletions. The TK2 genes were sequenced using Sanger sequencing from genomic DNA. All muscle biopsies presented ragged red fibres (RRFs), and the prevalence was greater in younger ages, along with an increase in succinate dehydrogenase (SDH) activity and cytochrome c oxidase (COX)-negative fibres. An endomysial inflammatory infiltrate was observed in younger patients and was accompanied by an overexpression of major histocompatibility complex type I (MHC I). The immunofluorescence study for complex I and IV showed a greater number of fibres than those that were visualized by COX staining. In the ultrastructural analysis, we found three major types of mitochondrial alterations, consisting of concentrically arranged lamellar cristae, electrodense granules, and intramitochondrial vacuoles. The pathological features in the muscle showed substantial differences in the youngest patients when compared with those that had a later onset of the disease. Additional ultrastructural features are described in the muscle biopsy, such as sarcomeric de-structuration in the youngest patients with a more severe phenotype.
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It is part of: International Journal of Molecular Sciences, 2022, vol. 23, núm. 19, p. 11002
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ISSN: 1422-0067
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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