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dc.contributor.authorCostello, Stephanann M.
dc.contributor.authorCheney, Alexandra M.
dc.contributor.authorWaldum, Annie
dc.contributor.authorTripet, Brian
dc.contributor.authorCotrina-Vidal, Maria
dc.contributor.authorKaufmann, Horacio
dc.contributor.authorNorcliffe-Kaufmann, Lucy
dc.contributor.authorLefcort, Frances
dc.contributor.authorCopié, Valérie
dc.identifier.citationCostello SM, Cheney AM, Waldum A, Tripet B, Cotrina-Vidal M, Kaufmann H, Norcliffe-Kaufmann L, Lefcort F, Copié V. A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations. Metabolites. 2023; 13(3):433.
dc.description.abstractCentral metabolism has a profound impact on the clinical phenotypes and penetrance of neurological diseases such as Alzheimer’s (AD) and Parkinson’s (PD) diseases, Amyotrophic Lateral Sclerosis (ALS) and Autism Spectrum Disorder (ASD). In contrast to the multifactorial origin of these neurological diseases, neurodevelopmental impairment and neurodegeneration in Familial Dysautonomia (FD) results from a single point mutation in the ELP1 gene. FD patients represent a well-defined population who can help us better understand the cellular networks underlying neurodegeneration, and how disease traits are affected by metabolic dysfunction, which in turn may contribute to dysregulation of the gut–brain axis of FD. Here, 1H NMR spectroscopy was employed to characterize the serum and fecal metabolomes of FD patients, and to assess similarities and differences in the polar metabolite profiles between FD patients and healthy relative controls. Findings from this work revealed noteworthy metabolic alterations reflected in energy (ATP) production, mitochondrial function, amino acid and nucleotide catabolism, neurosignaling molecules, and gut-microbial metabolism. These results provide further evidence for a close interconnection between metabolism, neurodegeneration, and gut microbiome dysbiosis in FD, and create an opportunity to explore whether metabolic interventions targeting the gut–brain–metabolism axis of FD could be used to redress or slow down the progressive neurodegeneration observed in FD patients.en_US
dc.publisherMDPI AGen_US
dc.subjectfamilial dysautonomiaen_US
dc.subjectNMR metabolomicsen_US
dc.subjecthuman stool and serum polar metabolite profilesen_US
dc.subjectelongator protein subunit 1en_US
dc.subjectneurodegenerative diseasesen_US
dc.subjectneurological disordersen_US
dc.subjectgut-brain-metabolism axisen_US
dc.subjectmultivariate statistical analysisen_US
dc.titleA Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbationsen_US
mus.relation.collegeCollege of Letters & Scienceen_US
mus.relation.departmentChemistry & Biochemistry.en_US
mus.relation.universityMontana State University - Bozemanen_US

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