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Sphingolipid and Phospholipid Levels Are Altered in Human Brain in Chorea‐Acanthocytosis
Movement disorders, 2023-08, Vol.38 (8), p.1535-1541
Miltenberger‐Miltenyi, Gabriel
Jones, Attila
Tetlow, Amber M.
Conceição, Vasco A.
Crary, John F.
Ditzel, Ricky Michael
Farrell, Kurt
Nandakumar, Renu
Barton, Brandon
Karp, Barbara I.
Kirby, Alana
Lett, Debra J.
Mente, Karin
Morgello, Susan
Simon, David K.
Walker, Ruth H.
2023
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Miltenberger‐Miltenyi, Gabriel
Jones, Attila
Tetlow, Amber M.
Conceição, Vasco A.
Crary, John F.
Ditzel, Ricky Michael
Farrell, Kurt
Nandakumar, Renu
Barton, Brandon
Karp, Barbara I.
Kirby, Alana
Lett, Debra J.
Mente, Karin
Morgello, Susan
Simon, David K.
Walker, Ruth H.
Titel
Sphingolipid and Phospholipid Levels Are Altered in Human Brain in Chorea‐Acanthocytosis
Ist Teil von
Movement disorders, 2023-08, Vol.38 (8), p.1535-1541
Ort / Verlag
Hoboken, USA: John Wiley & Sons, Inc
Erscheinungsjahr
2023
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Background Chorea‐acanthocytosis (ChAc) is associated with mutations of VPS13A, which encodes for chorein, a protein implicated in lipid transport at intracellular membrane contact sites. Objectives The goal of this study was to establish the lipidomic profile of patients with ChAc. Methods We analyzed 593 lipid species in the caudate nucleus (CN), putamen, and dorsolateral prefrontal cortex (DLPFC) from postmortem tissues of four patients with ChAc and six patients without ChAc. Results We found increased levels of bis(monoacylglycerol)phosphate, sulfatide, lysophosphatidylserine, and phosphatidylcholine ether in the CN and putamen, but not in the DLPFC, of patients with ChAc. Phosphatidylserine and monoacylglycerol were increased in the CN and N‐acyl phosphatidylserine in the putamen. N‐acyl serine was decreased in the CN and DLPFC, whereas lysophosphatidylinositol was decreased in the DLPFC. Conclusions We present the first evidence of altered sphingolipid and phospholipid levels in the brains of patients with ChAc. Our observations are congruent with recent findings in cellular and animal models, and implicate defects of lipid processing in VPS13A disease pathophysiology. © 2023 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.29445
Titel-ID: cdi_proquest_miscellaneous_2825501184
Format
–
Schlagworte
Animal models
,
brain
,
Caudate nucleus
,
Chorea
,
chorea‐acanthocytosis
,
Lecithin
,
Lipids
,
Movement disorders
,
Phosphatidylcholine
,
Phosphatidylserine
,
Phospholipids
,
Prefrontal cortex
,
Protein transport
,
Putamen
,
sphingolipids
,
Sulfatide
,
VPS13A
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