ArticleJournal of inherited metabolic disease2012
Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.
Article in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.
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Who cites it
51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 90 citations in OpenAlex.
- A systematic review on the definition of rhabdomyolysis.Journal of neurology · 2020Pooled it
- Role of genetics in the prediction of statin-associated muscle symptoms and optimization of statin use and adherence.Cardiovascular research · 2018Pooled it
- Loss of Lipin1 Contributes to Multiple Pathological Processes in the Development of Heart Failure.Journal of the American Heart Association · 2025Article
- Physical exercise in metabolic myopathies at risk of rhabdomyolysis: a feasible approach or an unavoidable hazard?European journal of applied physiology · 2025Review
- Lipin phosphatidic acid phosphatases: Structure, function, regulation, and disease association.Advances in biological regulation · 2025Review
- LPIN3 promotes colorectal cancer growth by dampening intratumoral CD8Cancer immunology, immunotherapy : CII · 2025Article
- Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.Journal of inherited metabolic disease · 2025Review
- Emergency Management of Intoxication-Type Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2025Review
- Adult-Onset Episodic Rhabdomyolysis in a Patient With a Heterozygous Lipin 1 (LPIN1) Mutation: A Case Report.Cureus · 2025Article
- Mitochondrial dynamics at the intersection of macrophage polarization and metabolism.Frontiers in immunology · 2025Review
- Lipin3 deficiency aggravates cisplatin induced acute kidney injury via activating Sirt1-p21-Caspase 3-GSDME pyroptosis pathway.International journal of biological sciences · 2025Article
- Haploinsufficiency of Lipin3 leads to hypertriglyceridemia and obesity by disrupting the expression and nucleocytoplasmic localization of Lipin1.Frontiers of medicine · 2024Article
- Role of lipins in cardiovascular diseases.Lipids in health and disease · 2023Review
- Article
- Acute Rhabdomyolysis in a Child with Multiple Suspicious Gene Variants.Case reports in pediatrics · 2022Article
- Sequence Variation in the Bovine Lipin-1 Gene (Animals : an open access journal from MDPI · 2021Article
- Article
- Myocardial Lipin 1 knockout in mice approximates cardiac effects of human LPIN1 mutations.JCI insight · 2021Article
- LPIN1 downregulation enhances anticancer activity of the novel HDAC/PI3K dual inhibitor FK-A11.Cancer science · 2021Article
- Acute recurrent rhabdomyolysis in a Chinese boy associated with a novel compound heterozygous LPIN1 variant: a case report.BMC neurology · 2021Article
Corrections and comments
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Authors and funding
27 authors at 20 institutions in 9 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecessive LPIN1 mutations were identified as a cause of severe rhabdomyolysis in pediatric patients. The human lipin family includes two other closely related members, lipin-2 and 3, which share strong homology and similar activity. The study aimed to determine the involvement of the LPIN family genes in a cohort of pediatric and adult patients (n = 171) presenting with muscular symptoms, ranging from severe (CK >10 000 UI/L) or moderate (CK <10 000 UI/L) rhabdomyolysis (n = 141) to exercise-induced myalgia (n = 30), and to report the clinical findings in patients harboring mutations.
methodsCoding regions of LPIN1, LPIN2 and LPIN3 genes were sequenced using genomic or complementary DNAs.
resultsEighteen patients harbored two LPIN1 mutations, including a frequent intragenic deletion. All presented with severe episodes of rhabdomyolysis, starting before age 6 years except two (8 and 42 years). Few patients also suffered from permanent muscle symptoms, including the eldest ones (≥ 40 years). Around 3/4 of muscle biopsies showed accumulation of lipid droplets. At least 40% of heterozygous relatives presented muscular myalgia. Nine heterozygous SNPs in LPIN family genes were identified in milder phenotypes (mild rhabdomyolysis or myalgia). These variants were non-functional in yeast complementation assay based on respiratory activity, except the LPIN3-P24L variant.
conclusionLPIN1-related myolysis constitutes a major cause of early-onset rhabdomyolysis and occasionally in adults. Heterozygous LPIN1 mutations may cause mild muscular symptoms. No major defects of LPIN2 or LPIN3 genes were associated with muscular manifestations.
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