A multidisciplinary approach to study a couple of monozygotic twins discordant for the chronic fatigue syndrome: a focus on potential salivary biomarkers

Ciregia, Federica; Giusti, Laura; Valle, Ylenia Da; Donadio, Elena; Consensi, Arianna; Giacomelli, Camillo; Sernissi, Francesca; Scarpellini, P.; Maggi, Fabrizio; Lucacchini, Antonio; Bazzichi, Laura

doi:10.1186/1479-5876-11-243

Cited by 31 publications

(38 citation statements)

References 55 publications

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“…In order to profile the mitochondrial proteins in CFS, we purified mitochondria from platelets of the same couple of monozygotic twins, discordant for CFS, which was investigated in our previous work. 20 To evaluate the quality of the isolated mitochondria, enzymatic assay and WB analysis were employed (see Supplementary Results 1 ), confirming that we reached satisfactory mitochondrial enrichment ( Supplementary Figure ). We obtained a mitochondrial fraction of 450 μg of proteins starting roughly from 5 × 10 9 platelets.…”

Section: Resultssupporting

confidence: 58%

“…Thereby, in a previous work, we investigated the proteomic salivary profile in a couple of monozygotic twins discordant for CFS. 20 In particular, our results highlighted the involvement of inflammatory response in CFS pathogenesis. Following the encouraging results obtained with this preliminary study, we sought to improve our knowledge about mechanisms of CFS by analyzing mitochondrial proteins in the same couple of monozygotic twins discordant for CFS.…”

Section: Introductionsupporting

confidence: 53%

“…The twins of the previous study 20 were enrolled to collect peripheral venous blood samples for the purpose of ‘discovery' phase, and saliva for the validation. Samples, both blood and WS, were collected three times from the twins.…”

Section: Methodsmentioning

confidence: 99%

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Bottom-up proteomics suggests an association between differential expression of mitochondrial proteins and chronic fatigue syndrome

et al. 2016

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Chronic fatigue syndrome (CFS) is a debilitating and complex disorder characterized by unexplained fatigue not improved by rest. An area of investigation is the likely connection of CFS with defective mitochondrial function. In a previous work, we investigated the proteomic salivary profile in a couple of monozygotic twins discordant for CFS. Following this work, we analyzed mitochondrial proteins in the same couple of twins. Nano-liquid chromatography electrospray ionization mass spectrometry (nano-LC-MS) was used to study the mitochondria extracted from platelets of the twins. Subsequently, we selected three proteins that were validated using western blot analysis in a big cohort of subjects (n=45 CFS; n=45 healthy), using whole saliva (WS). The selected proteins were as follows: aconitate hydratase (ACON), ATP synthase subunit beta (ATPB) and malate dehydrogenase (MDHM). Results for ATPB and ACON confirmed their upregulation in CFS. However, the MDHM alteration was not confirmed. Thereafter, seeing the great variability of clinical features of CFS patients, we decided to analyze the expression of our proteins after splitting patients according to clinical parameters. For each marker, the values were actually higher in the group of patients who had clinical features similar to the ill twin. In conclusion, these results suggest that our potential markers could be one of the criteria to be taken into account for helping in diagnosis. Furthermore, the identification of biomarkers present in particular subgroups of CFS patients may help in shedding light upon the complex entity of CFS. Moreover, it could help in developing tailored treatments.

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Section: Resultssupporting

confidence: 58%

Section: Introductionsupporting

confidence: 53%

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Bottom-up proteomics suggests an association between differential expression of mitochondrial proteins and chronic fatigue syndrome

et al. 2016

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“…Using saliva samples to analyze protein profiles, Ciregia et al . [ 357 ] found 13 proteins with a different expression in ME versus controls indicating the inflammatory response.…”

Section: Biochemistry In Me Symptomologymentioning

confidence: 99%

Myalgic Encephalomyelitis: Symptoms and Biomarkers

Jason¹,

Zinn²,

Zinn

2015

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Myalgic Encephalomyelitis (ME) continues to cause significant morbidity worldwide with an estimated one million cases in the United States. Hurdles to establishing consensus to achieve accurate evaluation of patients with ME continue, fueled by poor agreement about case definitions, slow progress in development of standardized diagnostic approaches, and issues surrounding research priorities. Because there are other medical problems, such as early MS and Parkinson's Disease, which have some similar clinical presentations, it is critical to accurately diagnose ME to make a differential diagnosis. In this article, we explore and summarize advances in the physiological and neurological approaches to understanding, diagnosing, and treating ME. We identify key areas and approaches to elucidate the core and secondary symptom clusters in ME so as to provide some practical suggestions in evaluation of ME for clinicians and researchers. This review, therefore, represents a synthesis of key discussions in the literature, and has important implications for a better understanding of ME, its biological markers, and diagnostic criteria. There is a clear need for more longitudinal studies in this area with larger data sets, which correct for multiple testing.

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“…Saliva has long been used as a sampling source for clinical diagnosis [ 5 - 13 ]. Saliva offers advantages over blood and bone marrow for its non-invasive nature, easy storage and transportation, cost-effectiveness, and safe handling [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Saliva as a sampling source for the detection of leukemic fusion transcripts

Chen

Song

et al. 2014

J Transl Med

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BackgroundSaliva has long been used as a sampling source for clinical diagnosis of oral disease such as oral squamous cell carcinoma, or therapeutic drug monitoring. The aims of this study was to ascertain if saliva RNA could be stored at room temperature and to study if saliva could be a convenient source for fusion transcripts in leukemic patients.MethodsThis is a cross-sectional diagnostic study. We first developed a Saliva RNA tube for stable storage of whole saliva RNA at room temperature. Then we detected the leukemic fusions in the whole saliva from seven leukemic patients and twenty healthy volunteers, and compared with the results obtained from the bone marrow of the patients.ResultsHuman gene transcripts could be reproducibly detected in the whole saliva for at least four weeks when stored in the developed composition at room temperature. Concordant results of the fusion transcripts were obtained between the saliva and the bone marrow in the seven leukemic patients and no fusions were detected in the healthy controls.ConclusionsThe results support our hypothesis that human whole saliva could be a reliable and convenient sampling source for the detection of leukemic fusions.

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A multidisciplinary approach to study a couple of monozygotic twins discordant for the chronic fatigue syndrome: a focus on potential salivary biomarkers

Cited by 31 publications

References 55 publications

Bottom-up proteomics suggests an association between differential expression of mitochondrial proteins and chronic fatigue syndrome

Bottom-up proteomics suggests an association between differential expression of mitochondrial proteins and chronic fatigue syndrome

Myalgic Encephalomyelitis: Symptoms and Biomarkers

Saliva as a sampling source for the detection of leukemic fusion transcripts

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