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

## TL;DR

This study explores mitochondrial DNA changes in extraocular muscles of children who had strabismus surgery, finding a common mutation in the ANT1 gene.

## Contribution

The study is among the first to investigate mtDNA mutations in extraocular muscles of strabismus patients, identifying a prevalent mutation in the ANT1 gene.

## Key findings

- Atrophic changes in muscle fibers were observed in the examined tissue.
- A dominant genetic mutation in the ANT1 gene was found in 12 out of 15 patients.
- The findings suggest a potential link between mtDNA mutations and strabismus.

## 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.