The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases

Frutos, Laura López de; Cebolla, Jorge J.; Irún, Pilar; Köhler, Ralf; Giraldo, Pilar

doi:10.1016/j.cca.2018.02.010

Cited by 6 publications

(2 citation statements)

References 29 publications

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“…The evaluation of erythrocyte osmotic stability is very important for the study of these cells [19][20][21][22][23][24][25] and constitutes a relevant clinical tool, not only for the characterization of erythrocytopathies, but also for the study of several diseases, such as type 1 diabetes, 26 malaria and pre-eclampsia 27,28 and clinical interventions such as bariatric surgery 29 and physical exercise 30 among other situations that may affect red blood cells.…”

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confidence: 99%

Red cell distribution width and erythrocyte osmotic stability in type 2 diabetes mellitus

Knychala

Garrote-Filho

Silva

et al. 2021

J Cellular Molecular Medi

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This study aimed to investigate the relationship between red cell distribution width (RDW) and erythrocyte osmotic stability in non‐diabetic and diabetic individuals in both sexes. The study sample (N = 122) was constituted by 53 type 2 diabetics (DM) and 69 non‐diabetics (ND), being 21 and 22 men in each group, respectively. The osmotic stability of erythrocytes was obtained by the variation in saline concentration (dX) capable of determining hypoosmotic lysis. Higher RDW values and lower serum iron concentrations were found in the diabetic group when compared to the non‐diabetic volunteers. In the group of diabetic women, RDW was positively correlated with the reticulocyte index, and both RDW and dX were negatively correlated with iron, haemoglobin, transferrin saturation index, mean corpuscular haemoglobin and mean corpuscular haemoglobin concentration. In all the groups studied, RDW was positively correlated with dX, especially in the diabetic group, where the correlation was the strongest. RDW elevation in both women and men with type 2 diabetes mellitus was associated with decreased serum iron indicators. Furthermore, RDW has a similar meaning to dX, as small erythrocytes have less haemoglobin, resulting in both an increase of RDW and dX.

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confidence: 99%

Red cell distribution width and erythrocyte osmotic stability in type 2 diabetes mellitus

Knychala

Garrote-Filho

Silva

et al. 2021

J Cellular Molecular Medi

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“…Thus, patients with NPA and NPB can be diagnosed with acid sphingomyelinase (ASM) de ciency. NPD type C (NPD-C1, MIM257220; or NPD-C2, MIM601015) results from a defect in the transport of low-density lipoprotein cholesterol in cells (3,4). Type D is also known as Nova Scotia NPD; some cases are an allelic variant of NPD-C1 (5).…”

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confidence: 99%

SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Niemann–Pick Disease Types A and B

Wang

Qin

Huang

et al. 2022

Preprint

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Background: Types A and B of the rare genetic disease Niemann–Pick disease (NPD) are caused by mutations in the SMPD1 gene, which encodes sphingomyelin phosphodiesterase (ASM). Except for the liver and spleen enlargement and lung disease, the two subtypes have different onset times, survival times, ASM activities, and neurological abnormalities. To comprehensively explore the genotype-phenotype association and pathophysiological characteristics of NPD, we collected 144 NPD cases with strict quality control through literature mining. Results: The difference in ASM activity can differentiate NPD type A from other subtypes, with the ratio of ASM activity to the reference values being lower in type A (threshold 0.045 (4.45%)). Severe variations, such as deletion and insertion, can cause complete loss of ASM function, leading to type A, whereas relatively mild missense mutations generally result in type B. Among reported mutations, p.Arg3AlafsX76 mutation is highly prevalent in the Chinese population, and p.R608del mutation is common in Mediterranean countries. The expression profiles of SMPD1 from GTEx and single-cell RNA sequencing data of multiple fetal tissues showed that high expressions of SMPD1 can be observed in the liver, spleen, and brain tissues of adults and in hepatoblasts, hematopoietic stem cells, STC2_TLX1-positive cells, mesothelial cells of the spleen, vascular endothelial cells of the cerebellum and the cerebrum of fetuses, indicating that SMPD1 dysfunction is highly likely to have a significant effect on the function of those cell types during development and the clinicians need pay attention to these organs or tissues as well during diagnosis. In addition, we also predicted 21 new pathogenic mutations in the SMPD1 gene that potentially cause the NPD, signifying that more rare cases will be detected with those mutations in SMPD1. Conclusions: Our study is the first one to elucidate the effects of SMPD1 mutation on cell types and at the tissue level, which provides new insights into the genotype-phenotype association and can help in the precise diagnosis of NPD.

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Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency

Giraldo

Frutos

Cebolla

2022

Expert Opinion on Orphan Drugs

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The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases

Cited by 6 publications

References 29 publications

Red cell distribution width and erythrocyte osmotic stability in type 2 diabetes mellitus

Red cell distribution width and erythrocyte osmotic stability in type 2 diabetes mellitus

SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Niemann–Pick Disease Types A and B

Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency

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