A Preliminary Study of the Occurrence of Genetic Changes in mtDNA in the Muscles in Children Treated for Strabismus

Author:

Pawłowski Wojciech1,Reszeć-Giełażyn Joanna2,Cechowska-Pasko Marzanna3ORCID,Urban Beata1ORCID,Bakunowicz-Łazarczyk Alina1

Affiliation:

1. Department of Pediatric Ophthalmology and Strabismus, Medical University of Białystok, 15-089 Białystok, Poland

2. Department of Medical Pathomorphology, Medical University of Białystok, 15-089 Białystok, Poland

3. Department of Pharmaceutical Biochemistry, Medical University of Białystok, 15-089 Białystok, Poland

Abstract

Background: The dysregulation of extraocular muscles (EOMs) in the strabismus may be partly due to modification in the mitochondrial DNA (mtDNA). Currently, little is known about changes occurring in mtDNA of EOMs in patients with strabismus, therefore the aim of our study was to analyze if there are any changes occurring in the mitochondrial DNA of extraocular muscles in children that underwent strabismus surgery in our clinic. Methods: MtDNA was isolated from the tissue material using the Qiagen kit. Assessment of mtDNA mutations was performed by next-generation sequencing (NGS) using the Illumina MiSeq protocol. Results: The examination revealed the presence of atrophic changes in muscle fibers. NGS evaluation revealed a dominant genetic mutation in the ANT1 gene in 12 of the 15 patients examined. Conclusions: The presented results constitute the beginning of research on changes in mtDNA occurring in the muscles of children with strabismus surgery. Further studies are necessary in the context of resolving the transcriptomic differences between strabismic and non-strabismic EOMs. Better understanding of the molecular genetics of strabismus will lead to improved knowledge of the disease mechanisms and ultimately to a more effective treatment.

Publisher

MDPI AG

Reference27 articles.

1. (2020, November 05). Strabismus Surgery—American Association for Pediatric Ophthalmology and Strabismus. Available online: https://aapos.org.

2. Consequences of inner mitochondrial membrane protein misfolding;Coyne;Mitochondrion,2019

3. Mitochondrial ANT-1 related adPEO leading to cognitive impairment: Is there a link?;Simoncini;Acta Myol.,2017

4. Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders;Man;Neuromuscul. Disord.,2005

5. Wright, K.W. (1995). Pediatric Ophthalmology and Strabismus, Mosby.

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