Most importantly proteomics analyses have been incorporated

Most importantly, proteomics analyses have been incorporated in the study of numerous endocrine diseases that appear or may appear in childhood, starting from the stage of the early fetus to the universally applied newborn screening programs and to adolescence, and shedding light on the molecular pathophysiology of some of the rarest metabolic diseases. This review will provide an up-to-date summary of the proteomic studies related to pediatric endocrinology. Although some of these studies have been performed in adults, they have a direct clinical impact on the pediatric population as well (Table 1).
Proteomics and inborn errors of metabolism Proteomics have been widely applied in the complex and poorly understood field of inborn errors of metabolism, in an attempt to understand the affected pathophysiologic mechanisms and, hence, extrapolate panels of biomarkers for early diagnosis and monitoring of response to treatment. Since its introduction in 1990's, Tandem Mass Spectrometry has revolutionized screening processes by allowing simultaneous detection of many metabolic disorders through a single dried blood spot has been utilized in millions of infants. As a result, neonatal screening has expanded to include a panel of 31 primary and 26 secondary conditions, the majority of which have biomarkers identified through mass spectrometry [6]. In the majority of cases, early recognition and prompt YM178 of treatment either by medications or by dietary intervention prevents mental retardation and substantially improves the health of patients.
Proteomics and type 1 diabetes mellitus Type 1 diabetes (T1D) mellitus is one of the fields of Pediatric Endocrinology where proteomics have found multiple applications and have been proven to be a powerful tool to support the current trends of research. Better insight in the pathophysiology of diabetes and its complications is expected to allow a more targeted approach, especially through novel and promising preventive and therapeutic options [28].
Proteomics and the metabolic syndrome Given the expanding epidemic of childhood obesity, the identification of novel biomarkers of cardiometabolic risk and T2D may have an application in pediatrics as well. These biomarkers may also have increased clinical significance in the emerging, large community of children conceived by Assisted Reproduction Technologies, who are at increased risk for developing metabolic disorders [77]. Finally, another subgroup of pediatric patients at risk for type 2 diabetes mellitus is the group of adolescent girls with the Polycystic Ovaries Syndrome (PCOS).
Proteomics and the adrenal glands
Proteomics and the thyroid gland MALDI-TOF-MS analysis in samples from excised thyroid tissues from patients with Grave's disease has revealed the role of endoplasmic reticulum stress (ER-stress), oxidative stress and energy-related proteins that were significantly overexpressed compared to samples from healthy controls [123]. Proteomics have also been applied in the identification of biomarkers of Grave's orbitopathy, a common autoimmune complication of Grave's disease, with the aim of elucidating the pathophysiology of the process, identify at-risk patients, monitor disease activity and examine response to treatment. In the first study by Matheis et al., MALDI-TOF-MS was applied to orbital and peripheral adipose tissue samples from treated and untreated patients, as well as from healthy controls. Ten proteins, mainly involved in tissue inflammation and remodelling, were significantly up-regulated in the patient group, primarily in those untreated. The expression of these proteins was reduced after glucocorticoid therapy, indicating, thus a response to treatment [124]. Aass et al., have analyzed tear fluid from patients with Grave's disease with or without orbitopathy, using quantitative proteomics by applying dimethyl labelling followed by LC-MS. Sixteen proteins were differentially expressed between the two groups and might act as potential early predictive biomarkers or markers of disease progression, especially useful in clinical practice given the non-invasive nature of tear fluid collection [125].