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SMPD1 基因突变与重型 β-地中海贫血。

SMPD1 gene variants in patients with β-Thalassemia major.

机构信息

Department of Hematology, Prof. Dr. Süleyman Yalçın City Hospital, Eğitim mah, Dr. Erkin Cd. No:161/1, 34722, Kadıköy, İstanbul, Turkey.

Department of Medical Genetics, Prof. Dr. Süleyman Yalçın City Hospital, Kadıköy, İstanbul, Turkey.

出版信息

Mol Biol Rep. 2023 Apr;50(4):3355-3363. doi: 10.1007/s11033-023-08275-x. Epub 2023 Feb 1.

DOI:10.1007/s11033-023-08275-x
PMID:36725747
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10042979/
Abstract

BACKGROUND

β-thalassemia major and Niemann-Pick diseases have similar clinical and laboratory findings. We aimed to investigate the effects of sphingomyelin phosphodiesterase 1 (SMPD1) gene variants on the clinical and laboratory findings in patients with β-thalassemia major.

METHODS AND RESULTS

This study included 45 patients who were followed up for β-thalassemia major in our clinic. Plasma chitotriosidase, leukocyte acid sphingomyelinase, liver enzymes, ferritin, hemogram, biochemical parameters, SMPD1 gene variant analysis, cardiac T2* MRI, and liver R2 MRI were assessed in all patients. The SMPD1 gene c.132_143del, p.A46_L49del (c.108GCTGGC[4] (p.38AL[4])) (rs3838786) variant was detected in 9 of 45 (20.0%) patients. Plasma chitotriosidase, ferritin, acetyl aminotransferase, and alanine aminotransferase levels were significantly higher in patients with the gene variant than in those without (p < 0.05). Leukocyte acid sphingomyelinase levels were significantly lower in patients with the gene variant than in those without (p < 0.05).

CONCLUSION

These results imply that the clinical and laboratory findings and some features of disease progression in patients with β-thalassemia major are similar to those of Niemann-Pick disease. They also suggest that SMPD1 gene c.132_143del, p.A46_L49del (c.108GCTGGC[4] (p.38AL[4])) (rs3838786) variant may underlie these clinical findings in patients with β-thalassemia major.

摘要

背景

重型β地中海贫血和尼曼-匹克病具有相似的临床和实验室表现。我们旨在研究鞘磷脂磷酸二酯酶 1（SMPD1）基因变异对重型β地中海贫血患者临床和实验室表现的影响。

方法和结果

本研究纳入了 45 名在我院接受重型β地中海贫血治疗的患者。所有患者均接受了血浆壳三糖苷酶、白细胞酸性鞘磷脂酶、肝酶、铁蛋白、血象、生化参数、SMPD1 基因变异分析、心脏 T2* MRI 和肝脏 R2 MRI 评估。在 45 名患者中，检测到 SMPD1 基因 c.132_143del，p.A46_L49del（c.108GCTGGC[4]（p.38AL[4]））（rs3838786）变异 9 例（20.0%）。与无基因变异的患者相比，携带该基因变异的患者的血浆壳三糖苷酶、铁蛋白、乙酰氨基转移酶和丙氨酸氨基转移酶水平显著升高（p<0.05）。携带该基因变异的患者白细胞酸性鞘磷脂酶水平显著低于无基因变异的患者（p<0.05）。

结论

这些结果表明，重型β地中海贫血患者的临床和实验室表现以及疾病进展的某些特征与尼曼-匹克病相似。此外，SMPD1 基因 c.132_143del，p.A46_L49del（c.108GCTGGC[4]（p.38AL[4]））（rs3838786）变异可能是导致重型β地中海贫血患者出现这些临床特征的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1962/10042979/6c9a284ce72c/11033_2023_8275_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1962/10042979/6c9a284ce72c/11033_2023_8275_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1962/10042979/6c9a284ce72c/11033_2023_8275_Fig1_HTML.jpg

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