posted on 2024-01-02, 10:04authored byKefu Liu, Gefan Wan, Yongcong Li, Zhenlong Liang, Yan Meng, Xiaozhou Yuan, Jinyan Duan
Mucopolysaccharidosis
type I (MPS I) is a lysosomal storage disease
caused by the deficiency of the enzyme α-l-iduronidase
(IDUA), typically leading to devastating secondary pathophysiological
cascades. Due to the irreversible nature of the disease’s progression,
early diagnosis and interventional treatment has become particularly
crucial. Considering the fact that serum and urine are the most commonly
used specimens in clinical practice for detection, we conducted an
analysis to identify the differential protein profile in the serum
and urine of MPS I patients using the tandem mass tag (TMT) technique.
A total of 182 differentially expressed proteins (DEPs) were detected
in serum, among which 9 showed significant differences as confirmed
by parallel reaction monitoring (PRM) analysis. The proteins APOA1
and LGFBP3 were downregulated in serum, while the expression levels
of ALDOB, CD163, CRTAC1, DPP4, LAMP2, SHBG, and SPP2 exhibited an
increase. In further exploratory studies of urinary proteomics, 32
identified DEPs were consistent with the discovered findings in serum
tests, specifically displaying a high diagnostic area under the curve
(AUC) value. Thus, our study demonstrates the value of serum-urine
integrated proteomic analysis in evaluating the clinical course of
MPS I and other potential metabolic disorders, shedding light on the
importance of early detection and intervention in these conditions.