ArticleThe Journal of clinical investigation2009
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
Article in The Journal of clinical investigation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 188 papers.
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188 citing papers in PubMed, 392 citations in OpenAlex.
- Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report.Molecular syndromology · 2026Article
- Characterization of intestinal immune responses in generalized human and murine lipodystrophy.The Journal of clinical investigation · 2026Article
- Modification of adipose mass by targeting distal enhancers of Ptrf.BMC biology · 2025Article
- Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism.Current diabetes reports · 2025Review
- Severe Insulin Resistance Syndromes: Clinical Spectrum and Management.International journal of molecular sciences · 2025Review
- Essential Biology of Lipid Droplets.Annual review of biochemistry · 2025Review
- Inherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent.Cureus · 2025Article
- Nanobodies against Cavin1 reveal structural flexibility and regulated interactions of its N-terminal coiled-coil domain.Journal of cell science · 2025Article
- The crosstalk of caveolin-1 and autophagy in different diseases.Frontiers in immunology · 2025Review
- The clinical approach to child and adolescent patients with lipodystrophy: a series of international case discussions.Frontiers in endocrinology · 2025Review
- Plasma membrane remodeling determines adipocyte expansion and mechanical adaptability.Nature communications · 2024Article
- Tissue-specific landscape of protein aggregation and quality control in an aging vertebrate.Developmental cell · 2024Article
- Roles of lipid droplets and related proteins in metabolic diseases.Lipids in health and disease · 2024Review
- Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.American journal of medical genetics. Part A · 2024Article
- Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.Orphanet journal of rare diseases · 2024Article
- The Cavin-1/Caveolin-1 interaction attenuates BMP/Smad signaling in pulmonary hypertension by interfering with BMPR2/Caveolin-1 binding.Communications biology · 2024Article
- Lipid droplet biogenesis and functions in health and disease.Nature reviews. Endocrinology · 2023Review
- Caveolae Mechanotransduction at the Interface between Cytoskeleton and Extracellular Matrix.Cells · 2023Review
- A new mutation in theFrontiers in endocrinology · 2023Review
- Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies.Neurology(R) neuroimmunology & neuroinflammation · 2023Article
128 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Caveolae are invaginations of the plasma membrane involved in many cellular processes, including clathrin-independent endocytosis, cholesterol transport, and signal transduction. They are characterized by the presence of caveolin proteins. Mutations that cause deficiency in caveolin-3, which is expressed exclusively in skeletal and cardiac muscle, have been linked to muscular dystrophy. Polymerase I and transcript release factor (PTRF; also known as cavin) is a caveolar-associated protein suggested to play an essential role in the formation of caveolae and the stabilization of caveolins. Here, we identified PTRF mutations in 5 nonconsanguineous patients who presented with both generalized lipodystrophy and muscular dystrophy. Muscle hypertrophy, muscle mounding, mild metabolic complications, and elevated serum creatine kinase levels were observed in these patients. Skeletal muscle biopsies revealed chronic dystrophic changes, deficiency and mislocalization of all 3 caveolin family members, and reduction of caveolae structure. We generated expression constructs recapitulating the human mutations; upon overexpression in myoblasts, these mutations resulted in PTRF mislocalization and disrupted physical interaction with caveolins. Our data confirm that PTRF is essential for formation of caveolae and proper localization of caveolins in human cells and suggest that clinical features observed in the patients with PTRF mutations are associated with a secondary deficiency of caveolins.
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