Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

Kavčič, Alja; Homan, Matjaž; Živanović, Milanka; Debeljak, Maruša; Butenko, Tita; Torkar, Ana Drole; Tanšek, Mojca Žerjav; Bertok, Sara; Battelino, Tadej; Grošelj, Urh

doi:10.12659/ajcr.937220

Cited by 3 publications

(2 citation statements)

References 12 publications

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“…A strong correlation exists between SMPD1 gene variants and L-ASM levels, and these gene variants are detected in patients with NPD [ 25 , 26 ], as in the case of an 11-year-old patient with NPD with a rare mutation in SMPD1 [ 27 ]. However, no such studies have been conducted in patients with β-TM.…”

Section: Discussionmentioning

confidence: 99%

SMPD1 gene variants in patients with β-Thalassemia major

Dursun

Özen

2023

Mol Biol Rep

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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.

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Section: Discussionmentioning

confidence: 99%

SMPD1 gene variants in patients with β-Thalassemia major

Dursun

Özen

2023

Mol Biol Rep

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“…Large foamy macrophages were also seen in his blood smear 13 . In another study, Kavcic et al observed the following symptoms in an 11‐month‐old boy with NPD type A: stunted growth, muscle hypotonia and hypotrophy, poor muscle strength, joint laxity, delayed motor development, weak tendon reflexes, auditory neuropathy, respiratory distress, and leukodystrophy in brain MRI 14 …”

Section: Clinical Featuresmentioning

confidence: 92%

Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Hosseini,

Fallahi,

Razban

et al. 2024

Cell Biochemistry & Function

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Niemann–Pick disease (NPD) is another type of metabolic disorder that is classified as lysosomal storage diseases (LSDs). The main cause of the disease is mutation in the SMPD1 (type A and B) or NPC1 or NPC2 (type C) genes, which lead to the accumulation of lipid substrates in the lysosomes of the liver, brain, spleen, lung, and bone marrow cells. This is followed by multiple cell damage, dysfunction of lysosomes, and finally dysfunction of body organs. So far, about 346, 575, and 30 mutations have been reported in SMPD1, NPC1, and NPC2 genes, respectively. Depending on the type of mutation and the clinical symptoms of the disease, the treatment will be different. The general aim of the current study is to review the clinical and molecular characteristics of patients with NPD and study various treatment methods for this disease with a focus on gene therapy approaches.

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