Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?

Renard, Perrine; Caccavelli, Laure; Legendre, Antoine; Tuchmann-Durand, Caroline; Balakirouchenane, David; Blanchet, Benoı̂t; Narjoz, Céline; Straube, Marjolène; Hubas, Arnaud; Garros, Alexa; Mention, Karine; Bednarek, Nathalie; Broissand, Christine; Schlatter, Joël; Cisternino, Salvatore; Cagnard, Nicolas; Endert, Peter van; Diana, Julien; Calbiac, Hortense de; Lonlay, Pascale de

doi:10.1016/j.biopha.2023.114813

Biomedicine & Pharmacotherapy

2023

DOI: 10.1016/j.biopha.2023.114813

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Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?

Perrine Renard¹,

Laure Caccavelli²,

Antoine Legendre³

et al.

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Cited by 3 publications

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Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases

de Calbiac,

Imbard,

de Lonlay

2024

J of Inher Metab Disea

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Acute rhabdomyolysis (RM) constitutes a life‐threatening emergency resulting from the (acute) breakdown of skeletal myofibers, characterized by a plasma creatine kinase (CK) level exceeding 1000 IU/L in response to a precipitating factor. Genetic predisposition, particularly inherited metabolic diseases, often underlie RM, contributing to recurrent episodes. Both sporadic and congenital forms of RM share common triggers. Considering the skeletal muscle's urgent need to rapidly adjust to environmental cues, sustaining sufficient energy levels and functional autophagy and mitophagy processes are vital for its preservation and response to stressors. Crucially, the composition of membrane lipids, along with lipid and calcium transport, and the availability of adenosine triphosphate (ATP), influence membrane biophysical properties, membrane curvature in skeletal muscle, calcium channel signaling regulation, and determine the characteristics of autophagic organelles. Consequently, a genetic defect involving ATP depletion, aberrant calcium release, abnormal lipid metabolism and/or lipid or calcium transport, and/or impaired anterograde trafficking may disrupt autophagy resulting in RM. The complex composition of lipid membranes also alters Toll‐like receptor signaling and viral replication. In response, infections, recognized triggers of RM, stimulate increased levels of inflammatory cytokines, affecting skeletal muscle integrity, energy metabolism, and cellular trafficking, while elevated temperatures can reduce the activity of thermolabile enzymes. Overall, several mechanisms can account for RMs and may be associated in the same disease‐causing RM.

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Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases

de Calbiac,

Imbard,

de Lonlay

2024

J of Inher Metab Disea

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Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders

Imbard,

de Calbiac,

Le Guillou

et al. 2024

J of Inher Metab Disea

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Patients with fatty acid oxidation disorders (FAODs) experience muscle symptoms due to impaired ATP metabolism and the toxicity of accumulated mitochondrial FAO substrates or intermediates, especially during catabolic states. A major issue is the absence of specific and sensible biomarkers to evaluate metabolic equilibrium. The relationship between cardiac output (Q) and oxygen consumption (VO2) during incremental exercise (dQ/dVO2) provides an indirect surrogate of mitochondrial function. A high dQ/dVO2 slope indicates impaired oxidative phosphorylation in skeletal muscle during exercise. Our study aimed to evaluate dQ/dVO2 as a potential marker of the severity of FAODs. We retrospectively collected clinical, laboratory parameters and treatment data for FAOD patients over 6 years old, including a disease severity score, plasma acylcarnitines and cardiopulmonary exercise tests with Q measurement via thoracic bioelectrical impedance. FAO flux was measured in whole blood and in myoblasts when available. We included 27 FAOD patients followed from 2015 to 2022, with deficiencies in LCHAD (n = 10), CPT2 (n = 6), VLCAD (n = 7), or MADD (n = 4). CPT2 deficient patients with severe scores had the highest C18:1‐, C16‐, C18‐acylcarnitines, and dQ/dVO2. In these patients, dQ/dVO2 was positively correlated with C18:1, C16, and C18 acylcarnitines. In a linear multivariate regression model, dQ/dVO2 was significantly associated with the severity score (B = 0.831, p = 0.008) and triheptanoin treatment (B = −0.547, p = 0.025). dQ/dVO2 and plasma long‐chain acylcarnitines might be useful to monitor CPT2D, as these parameters associate with our clinical severity score and could reflect altered mitochondrial functions.

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Role of lipins in cardiovascular diseases

Ding,

Song,

Wang

2023

Lipids Health Dis

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Lipin family members in mammals include lipins 1, 2, and 3. Lipin family proteins play a crucial role in lipid metabolism due to their bifunctionality as both transcriptional coregulators and phosphatidate phosphatase (PAP) enzymes. In this review, we discuss the structural features, expression patterns, and pathophysiologic functions of lipins, emphasizing their direct as well as indirect roles in cardiovascular diseases (CVDs). Elucidating the regulation of lipins facilitates a deeper understanding of the roles of lipins in the processes underlying CVDs. The activity of lipins is modulated at various levels, e.g., in the form of the transcription of genes, post-translational modifications, and subcellular protein localization. Because lipin characteristics are undergoing progressive clarification, further research is necessitated to then actuate the investigation of lipins as viable therapeutic targets in CVDs.

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Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?

Cited by 3 publications

References 48 publications

Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases

Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases

Circulatory response to exercise relative to oxygen uptake assessed in the follow‐up of patients with fatty acid beta‐oxidation disorders

Role of lipins in cardiovascular diseases

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