| Autor: |
Nilgun Karasu, Hamit Acer, Hilal Akalin, Mikail Demir, Izem Olcay Sahin, Nuriye Gokce, Ayten Gulec, Asli Ciplakligil, Ayse Caglar Sarilar, Isa Cuce, Hakan Gumus, Huseyin Per, Mehmet Canpolat, Munis Dundar |
| Rok vydání: |
2022 |
| DOI: |
10.21203/rs.3.rs-1442537/v1 |
| Popis: |
SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by homozygous deletion in exon 7 of the SMN1 gene. However, mutations in other genes in the SMA region may contribute to the disease. These include SMN2, which is a pseudogene of SMN1, as well as NAIP and GTF2H2. Within the scope of our study, 58 SMA patients and 40 healthy controls were analyzed in 2018–2021. SMN1 and SMN2 copy numbers were retrospectively included in the study. NAIP gene analyzes were performed by multiplex PCR method and GTF2H2 analyzes were performed by RFLP method respectively. We detected a significant correlation between clinical subtypes (type 2 and type 3) and ambulation status (p = 0.003) and HFMSE scores (p = 0.0063) of 27 pediatric SMA patients compared with separately. Highly differences were determined between SMN2 copy numbers and the SMA subtypes (p = 0.00001). Also, the NAIP gene (p = 0,0095) and the GTF2H2 gene (p = 0,0049) revealed a significant difference between the healthy subjects and SMA subjects, whereas in the SMA subtypes indicated no significant difference. Our investigation is the first to examine the relationship between SMA clinical severity and SMN locus genes in the Turkish population. This small-scale study may be regarded as a pilot study, and it may pave the way for future research to better understand the molecular pathophysiology of SMA disease. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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