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@ARTICLE{Cloos:277981,
      author       = {Cloos, Anne-Sophie and Ghodsi, Marine and Stommen, Amaury
                      and Recktenwald, Steffen M and Kaestner, Lars and Danek,
                      Adrian and Spranger, Adrian and Hermann, Andreas and
                      Peikert, Kevin and Tyteca, Donatienne},
      title        = {{R}ed blood cell lipid distribution in the pathophysiology
                      and laboratory evaluation of chorea-acanthocytosis and
                      {M}c{L}eod syndrome patients.},
      journal      = {Frontiers in physiology},
      volume       = {16},
      issn         = {1664-042X},
      address      = {Lausanne},
      publisher    = {Frontiers Research Foundation},
      reportid     = {DZNE-2025-00513},
      pages        = {1543812},
      year         = {2025},
      abstract     = {The core neuroacanthocytosis syndromes, i.e.,
                      chorea-acanthocytosis/VPS13A disease (ChAc) and McLeod
                      syndrome/XK disease (MLS), are respectively due to mutations
                      in VPS13A and XK genes and share similar manifestations
                      including the formation of acanthocytes. We previously
                      showed by lipidomics of red blood cells (RBCs) from ChAc
                      patients slight lipid changes compared to healthy controls.
                      We here evaluated the consequences for RBC morphology,
                      deformability, cytoskeleton and membrane lipid transversal
                      and lateral distribution in five patients with ChAc and two
                      patients with MLS. Compared to healthy donors, the two
                      patient cohorts showed a strong increase of abnormal RBCs
                      including acanthocytes and spheroechinocytes, a decrease in
                      RBC projected surface area and deformability, and a rise in
                      spectrin density. The abundance of cholesterol-enriched
                      domains and the proportion of RBCs with ceramide-enriched
                      patches were also increased while phosphatidylserine surface
                      exposure was slightly decreased. In contrast, the abundance
                      of sphingomyelin-enriched domains was poorly affected. At
                      the individual level, patients showing the highest
                      cholesterol-enriched domain abundance exhibited the highest
                      number of RBCs with ceramide-enriched patches, compatible
                      with RBC maturation defects, whereas patient RBCs exhibiting
                      the highest spectrin membrane density showed the strongest
                      loss of RBC projected surface area and the lowest abundance
                      of sphingomyelin-enriched domains, consistent with RBC
                      membrane alterations. Our study indicated that abnormal RBCs
                      were associated with lipid distribution and cytoskeleton
                      impairments, which appeared to result from both RBC
                      maturation defects and membrane alterations. Moreover, the
                      extent of lipid distribution alteration is well correlated
                      with laboratory parameters typically altered in
                      neuroacanthocytosis and could present an added value in
                      neuroacanthocytosis syndrome evaluation.},
      keywords     = {acanthocytes (Other) / ceramide (Other) / cholesterol
                      (Other) / erythrocyte maturation (Other) / lipid domains
                      (Other) / microfluidics (Other) / spectrin cytoskeleton
                      (Other) / sphingomyelin (Other)},
      cin          = {AG Hermann},
      ddc          = {610},
      cid          = {I:(DE-2719)1511100},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40213144},
      pmc          = {pmc:PMC11983514},
      doi          = {10.3389/fphys.2025.1543812},
      url          = {https://pub.dzne.de/record/277981},
}