Liver magnetic resonance spectroscopy as an alternative for evaluating Niemann-Pick C disease progression

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dc.catalogadorvzp
dc.contributor.authorCarvalho Da Silva, Xavier Aline
dc.contributor.authorOyarzun Isamitt, Juan Esteban
dc.contributor.authorZacconi Flavia, Cristina Milagro
dc.contributor.authorZanlungo Matsuhiro, Silvana
dc.contributor.authorAndia Kohnenkampf, Marcelo Edgardo
dc.date.accessioned2025-03-07T12:29:03Z
dc.date.available2025-03-07T12:29:03Z
dc.date.issued2025
dc.description.abstractNiemann-Pick disease (NP) is a group of rare genetic disorders that affect normal lipid metabolism and cause an accumulation of lipids in the liver, spleen, brain, and bone marrow. NP patients develop brain alterations and a very fast progression of liver damage. The purpose of this study is to characterize the changes in liver lipid composition during the progression of this disease using ex vivo magnetic resonance spectroscopy (MRS) in mouse models with the aim of identifying potential biomarkers to support a future non-invasive technique to follow-up these patients. NP type C (NPC) and wild-type (WT) mice were fed a chow diet and euthanized at 5 weeks of age (n = 5 per group) and 9 weeks of age (n = 5 per group). We extracted lipids from their livers and analyzed them with Gas Chromatography-Mass Spectrometry (GC-MS) and MRS. With the GC-MS analysis, 7 main fatty acids (FA) and cholesterols were quantified. Using MRS, we identified 5 metabolite peaks that correspond to FA only, 3 peaks that correspond to cholesterol only, and 2 peaks that correspond to FA and cholesterol. Our results show that the increase in liver cholesterol is the key biomarker for liver damage in NPC, which is consistent with a bad liver disease prognosis due to the association of increased cholesterol levels and liver inflammation. Additionally, we identified a difference in the pool of FA stored in the NPC compared to the WT mouse livers. Those different liver spectra could provide potential biomarkers for the non-invasive follow-up of NPC patients.
dc.fechaingreso.objetodigital2025-03-07
dc.format.extent7 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1039/d4ra06781a
dc.identifier.eissn2046-2069
dc.identifier.urihttps://doi.org/10.1039/d4ra06781a
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/102423
dc.identifier.wosidWOS:001414104300001
dc.information.autorucEscuela de Ingeniería; Carvalho Da Silva, Xavier Aline; S/I; 1030565
dc.information.autorucEscuela de Medicina; Oyarzun Isamitt, Juan Esteban; S/I; 171970
dc.information.autorucInstituto de Ingeniería Biológica y Médica; Zacconi, Flavia Cristina Milagro; 0000-0002-3676-0453; 1011127
dc.information.autorucEscuela de Medicina; Zanlungo Matsuhiro, Silvana; 0000-0001-8383-9829; 72650
dc.information.autorucEscuela de Medicina; Andia Kohnenkampf, Marcelo Edgardo; 0000-0002-1251-5832; 90691
dc.issue.numero6
dc.language.isoen
dc.nota.accesocontenido completo
dc.pagina.final4085
dc.pagina.inicio4079
dc.publisherROYAL SOC CHEMISTRY
dc.revistaRSC ADVANCES
dc.rightsacceso abierto
dc.rights.urihttps://creativecommons.org/licenses/by-nc/4.0/
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titleLiver magnetic resonance spectroscopy as an alternative for evaluating Niemann-Pick C disease progression
dc.typeartículo
dc.volumen15
sipa.codpersvinculados1030565
sipa.codpersvinculados171970
sipa.codpersvinculados1011127
sipa.codpersvinculados72650
sipa.codpersvinculados90691
sipa.trazabilidadWOS;2025-02-15
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