SMN2、NAIP 和 GTF2H2 基因缺失的分子分析以及与脊髓性肌萎缩症临床亚型的关系。

IF 1.8 4区 医学 Q3 GENETICS & HEREDITY Journal of neurogenetics Pub Date : 2024-09-25 DOI:10.1080/01677063.2024.2407332
Nilgun Karasu, Hamit Acer, Hilal Akalin, Burcu Turkgenc, Mikail Demir, Izem Olcay Sahin, Nuriye Gokce, Ayten Gulec, Asli Ciplakligil, Ayse Caglar Sarilar, Isa Cuce, Hakan Gumus, Huseyin Per, Mehmet Canpolat, Munis Dundar
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引用次数: 0

摘要

SMA(脊髓性肌萎缩症)是一种常染色体隐性神经肌肉疾病,会导致肌肉萎缩和无力。SMA 的诊断依据是 SMN1 基因第 7 外显子的同源染色体缺失。然而,位于 SMA 区域的基因(如 SMN2、NAIP、SERF1 和 GTF2H2)的突变也可能导致该病的严重程度。在我们的研究范围内,对2018-2021年申请的58名SMA患者和40名健康对照者进行了分析。研究回顾性地纳入了之前通过MLPA方法确定的SMN1和SMN2拷贝数。然后,用多重 PCR 方法对 NAIP 基因进行分析,用 RFLP 方法对 GTF2H2 基因进行分析。SMN2拷贝数与SMA亚型之间存在明显的相关性(p = 0.00001)。此外,NAIP基因(p = 0.01)和GTF2H2基因(p = 0.0049)在健康受试者和SMA受试者之间存在显著差异,而SMA亚型则无显著差异。我们发现,32 名小儿 SMA 患者的临床亚型与 HFMSE 评分之间存在明显的相关性(p = 0.01)。GTF2H2缺失的小儿患者运动功能较高,而NAIP缺失的患者运动功能较低。在这项研究中,我们考察了被称为SMN区域修饰基因的NAIP和GTF2H2与土耳其SMA患者疾病临床严重程度之间的关系。尽管研究规模较小,但这项研究将有助于今后对SMA疾病发病机制的研究。
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Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy.

SMA (spinal muscular atrophy) is an autosomal recessive neuromuscular disease that causes muscle atrophy and weakness. SMA is diagnosed by a homozygous deletion in exon 7 of the SMN1 gene. However, mutations in genes located in the SMA region, such as SMN2, NAIP, SERF1, and GTF2H2, may also contribute to the severity of the disease. Within our study's scope, 58 SMA patients who applied in 2018-2021 and 40 healthy controls were analyzed. The study retrospectively included the SMN1 and SMN2 copy numbers previously determined by the MLPA method. Then, NAIP gene analyses with the multiplex PCR method and GTF2H2 gene analyses with the RFLP method were performed. There was a significant correlation (p = 0.00001) between SMN2 copy numbers and SMA subtypes. Also, the NAIP gene (p = 0.01) and the GTF2H2 gene (p = 0.0049) revealed a significant difference between healthy and SMA subjects, whereas the SMA subtypes indicated no significant differences. We detected a significant correlation between clinical subtypes and HFMSE scores in 32 pediatric SMA patients compared (p = 0.01). While pediatric patients with GTF2H2 deletions demonstrated higher motor functions, and those with NAIP deletions demonstrated lower motor functions. In this study, we examined the relationship between NAIP and GTF2H2, called SMN region modifier genes, and the clinical severity of the disease in Turkish SMA patients. Despite its small scale, this research will benefit future investigations into the pathogenesis of SMA disease.

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来源期刊
Journal of neurogenetics
Journal of neurogenetics 医学-神经科学
CiteScore
4.40
自引率
0.00%
发文量
13
审稿时长
>12 weeks
期刊介绍: The Journal is appropriate for papers on behavioral, biochemical, or cellular aspects of neural function, plasticity, aging or disease. In addition to analyses in the traditional genetic-model organisms, C. elegans, Drosophila, mouse and the zebrafish, the Journal encourages submission of neurogenetic investigations performed in organisms not easily amenable to experimental genetics. Such investigations might, for instance, describe behavioral differences deriving from genetic variation within a species, or report human disease studies that provide exceptional insights into biological mechanisms
期刊最新文献
The initial years of the Cold Spring Harbor Laboratory summer course on the neurobiology of Drosophila. Clinical potential of epigenetic and microRNA biomarkers in PTSD. Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy. Neurobiology of egg-laying behavior in Drosophila: neural control of the female reproductive system. Memoir of the early years of the CSHL summer Drosophila neurobiology course: 1984-1985.
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