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Identification and Quantification of Deranged Metabolites in Critically Ill Patients Using NMR-Based Metabolomics
Published on: November 29, 2024
951
Metabolomic alterations associated with Kallmann syndrome
Ye Guo1, Xiaogang Li2, Songxin Yan1
1Department of Clinical Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
Annals of Translational Medicine
|May 16, 2020
Summary
Seminal plasma metabolic profiles differ in Kallmann syndrome (KS). Researchers identified altered levels of glycerophospholipids and linoleic acid (LA) as potential biomarkers for diagnosing this condition.
Area of Science:
- Metabolomics
- Endocrinology
- Reproductive Medicine
Background:
- Kallmann syndrome (KS) is a genetic disorder characterized by hypogonadotropic hypogonadism and impaired sense of smell.
- Identifying reliable biomarkers for KS is crucial for early diagnosis and management.
Purpose of the Study:
- To investigate seminal plasma metabolic profiles in patients with Kallmann syndrome.
- To identify potential metabolic markers associated with disease activity in KS.
Main Methods:
- Collected seminal plasma samples from 17 KS patients and 20 healthy controls (HC).
- Utilized Ultra-Performance Liquid Chromatography-Quadrupole Time-of-Flight Mass Spectrometry (UPLC-QTOF-MS) for metabolomics analysis.
- Applied Partial Least Squares Discriminant Analysis (PLS-DA) for data interpretation.
Main Results:
- Metabolomics profiling clearly distinguished KS patients from HC.
- Identified significant differences in metabolite levels between KS patients and HC.
- Key metabolic pathways affected include linoleic acid (LA) metabolism and glycerophospholipid metabolism.
Conclusions:
- Seminal plasma metabolomics reveals distinct alterations in KS patients.
- Glycerophospholipids and linoleic acid (LA) show promise as diagnostic biomarkers for Kallmann syndrome.
