Proteomic analysis for the identification of serum diagnostic markers for joint hypermobility syndrome.
نویسندگان
چکیده
Joint hypermobility syndrome (JHS) (also termed Ehlers-Danlos syndrome, hypermobility type) is a heritable connective tissue disorder which is characterized by generalized joint hypermobility, chronic pain, dizziness, fatigue, and minor skin changes. However, it has yet to be determined in patients with JHS whether specific genetic factors are involved in the risk of developing the disorder. Therefore, interventions have been limited to symptomatic treatments, and biomarkers for diagnosis and therapy have not yet been identified. In the present study, to identify potential serum biomarkers for JHS, we examined proteins with differential levels in sera from patients with JHS and in sera from control individuals using isobaric tags for relative and absolute quantitation (iTRAQ) labeling in combination with nano LC-MALDI-TOF/TOF-MS/MS followed by ProteinPilot analysis. In the sera of patients with JHS, a total of 106 proteins with differential levels were identified, and they were further narrowed down to 6 proteins (p<0.05, patient vs. control). Of the 6 proteins, proteins involved in the complement system including complement C1r subcomponent (C1R), vitronectin (VTN), complement component C9 (C9), and C4b-binding protein alpha chain (C4BPA) were identified as increased proteins in sera from patients with JHS compared with those in sera from controls. We confirmed increased levels of C1R and VTN in sera from patients with JHS by western blot analyses. The results indicate the possibility of a locally occurring inflammatory process in patients with JHS.
منابع مشابه
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family
Joint hypermobility is a common, mostly benign, finding in the general population. In a subset of individuals, however, it causes a range of clinical problems, mainly affecting the musculoskeletal system. Joint hypermobility often appears as a familial trait and is shared by several heritable connective tissue disorders, including the hypermobility subtype of the Ehlers-Danlos syndrome (EDS-HT)...
متن کاملApplication of Molecular DNA Markers (STRs) in Molecular Diagnosis of Down Syndrome in Iran
Down syndrome is one of the most common causes of mental retardation observed in approximately 1/700 live birth. The use of two or more STR markers related to chromosome 21 facilitates the diagnosis of Down syndrome within about six hours from the collection of the samples. This is the first study has been performed in Iranian population to assess the diagnostic value of using small tandem repe...
متن کاملEhlers-Danlos Syndrome (TYPEI) with Mental Retardation -an Unusual Association (Reports on Two Brothers)
Ehlers Danlos syndrome (EDS) is an inherited connective tissue disease due to impaired collagen metabolism. Joint hypermobility and skin hyper extensibility are the major findings. Six types of EDS are recognized. Type I or Gravis type is characterized by skin hyperextensibility, joint hypermobility, skin splitting autosoml dominancy inheritance, preterm premature rupture of membrane (PPROM) an...
متن کاملSurvey of potential diagnostic metabolite markers in serum of the rat model of Alzheimer’s disease using nuclear magnatic resonance (1H-NMR) technique
Introduction: The high prevalence of Alzheimerchr('39')s disease (AD) in todaychr('39')s societies indicates an urgent need for the development of methods that will help the early diagnosis of the disease. In this study, using proton nuclear magnetic resonance spectrometry (1H-NMR) metabolomics, identification of altered and distinct metabolites in serum of the rat model of AD was performed com...
متن کاملComparison of Vitamin D Levels in Children with Musculoskeletal Pain with and without Hypermobility of Joints
Background Vitamin D supplementation has been suggested as a part of an interdisciplinary approach for the management of chronic musculoskeletal pain in children and adolescents. This study aimed to compare vitamin D serum levels in Iranian children with chronic musculoskeletal pain with and without hypermobility. Materials and Methods: </s...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- International journal of molecular medicine
دوره 37 2 شماره
صفحات -
تاریخ انتشار 2016