IVS I-5 (G &gt; C) is associated with changes to the RBC membrane lipidome in response to hydroxyurea treatment in β-thalassemia patients

Lipids are biological molecules that play vital roles in all living organisms. They perform many cellular functions, such as 1) forming cellular and subcellular membranes, 2) storing and using energy, and 3) serving as chemical messengers during intra‐ and inter‐cellular signal transduction. The large‐scale study of the pathways and networks of cellular lipids in biological systems is called “lipidomics” and is one of the fastest‐growing omics technologies of the last two decades. With state‐of‐the‐art mass spectrometry instrumentation and sophisticated data handling, clinical studies show how human lipid composition changes in health and disease, thereby making it a valuable medium to collect for clinical applications, such as disease diagnostics, therapeutic decision‐making, and drug development. This review gives a comprehensive overview of current workflows used in clinical research, from sample collection and preparation to data and clinical interpretations. This is followed by an appraisal of applications in 2022 and a perspective on the exciting future of clinical lipidomics.

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Chewing the fat: How lipidomics is changing our understanding of human health and disease in 2022

Géhin

Fowler

Trivedi

2023

Analytical Science Advances

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Discovery-Based Proteomics Identify Skeletal Muscle Mitochondrial Alterations as an Early Metabolic Defect in a Mouse Model of β-Thalassemia

Reboucas

Fillebeen

Botta

et al. 2023

IJMS

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Although metabolic complications are common in thalassemia patients, there is still an unmet need to better understand underlying mechanisms. We used unbiased global proteomics to reveal molecular differences between the th3/+ mouse model of thalassemia and wild-type control animals focusing on skeletal muscles at 8 weeks of age. Our data point toward a significantly impaired mitochondrial oxidative phosphorylation. Furthermore, we observed a shift from oxidative fibre types toward more glycolytic fibre types in these animals, which was further supported by larger fibre-type cross-sectional areas in the more oxidative type fibres (type I/type IIa/type IIax hybrid). We also observed an increase in capillary density in th3/+ mice, indicative of a compensatory response. Western blotting for mitochondrial oxidative phosphorylation complex proteins and PCR analysis of mitochondrial genes indicated reduced mitochondrial content in the skeletal muscle but not the hearts of th3/+ mice. The phenotypic manifestation of these alterations was a small but significant reduction in glucose handling capacity. Overall, this study identified many important alterations in the proteome of th3/+ mice, amongst which mitochondrial defects leading to skeletal muscle remodelling and metabolic dysfunction were paramount.

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IVS I-5 (G > C) is associated with changes to the RBC membrane lipidome in response to hydroxyurea treatment in β-thalassemia patients

Abstract: Red Blood Cell’s membrane loses its integrity during hemoglobinopathies like β-thalassemia and sickle cell disease. Various mutations have been associated with β-thalassemia, the most prevalent of which is the IVS-1-5...

Cited by 2 publications

References 40 publications

Chewing the fat: How lipidomics is changing our understanding of human health and disease in 2022

Chewing the fat: How lipidomics is changing our understanding of human health and disease in 2022

Discovery-Based Proteomics Identify Skeletal Muscle Mitochondrial Alterations as an Early Metabolic Defect in a Mouse Model of β-Thalassemia

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