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CC BY 4.0 · Glob Med Genet 2022; 09(03): 226-236
DOI: 10.1055/s-0042-1751302
Original Article

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy Phenotype

Drenushe Zhuri 
1   Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Hakan Gurkan
1   Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Damla Eker
1   Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Yasemin Karal
2   Department of Pediatric Neurology, Trakya University Faculty of Medicine, Edirne, Turkey
,
Sinem Yalcintepe
1   Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Engin Atli
1   Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Selma Demir
1   Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
,
Emine Ikbal Atli
1   Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey
› Author Affiliations Funding This work was supported by the Trakya Scientific Research Projects Unit of Trakya University Faculty of Medicine (2018/326).
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Abstract

Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene reduces the clinical severity of disease, and it is defined as modifying effect. In this study, we aim to investigate the expression of modifying genes related to the prognosis of SMA like PLS3, PFN2, ZPR1, CORO1C, GTF2H2, NRN1, SERF1A, NCALD, NAIP, and TIA1.

Methods Seventeen patients, who came to Trakya University, Faculty of Medicine, Medical Genetics Department, with a preliminary diagnosis of SMA disease, and eight healthy controls were included in this study after multiplex ligation-dependent probe amplification analysis. Gene expression levels were determined by real-time reverse transcription polymerase chain reaction and delta–delta CT method by the isolation of RNA from peripheral blood of patients and controls.

Results SERF1A and NAIP genes compared between A group and B + C + D groups, and A group of healthy controls, showed statistically significant differences (p = 0.037, p = 0.001).

Discussion PLS3, NAIP, and NRN1 gene expressions related to SMA disease have been reported before in the literature. In our study, the expression levels of SERF1A, GTF2H2, NCALD, ZPR1, TIA1, PFN2, and CORO1C genes have been studied for the first time in SMA patients.

Keywords

spinal muscular atrophy - modifying genes - neuromuscular disorder - SMN1 - SMN2


Publication History

Article published online:
05 September 2022

© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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