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Pheochromocytoma and Paraganglioma
Published in Giuseppe Mancia, Guido Grassi, Konstantinos P. Tsioufis, Anna F. Dominiczak, Enrico Agabiti Rosei, Manual of Hypertension of the European Society of Hypertension, 2019
Andrzej Januszewicz, Jacques W.M. Lenders, Graeme Eisenhofer, Aleksander Prejbisz
Until now, 16 different PPGL susceptibility genes have been reported to cause PPGLs by germline mutations, including NF1 (neurofibromatosis type 1), RET (rearranged during transfection, protooncogene associated with MEN type 2), VHL, SDHD/SDHC/SDHB/SDHAF2/SDHA (familial paraganglioma syndromes), TMEM 127 (transmembrane protein 127), MAX (myc-associated factor X), HIF2alfa (hypoxia inducible factor) and others (FH [fumarate hydratase], MDH2 [malate dehydrogenase 2], EGLN1 and EGLN2 [Egl-9 family hypoxia inducible factor 1 and 2], and KIF1Bβ [kinesin family member B]).
Clinical application of molecular biomarkers in Duchenne muscular dystrophy: challenges and perspectives
Published in Expert Opinion on Orphan Drugs, 2021
Fernanda Fortunato, Alessandra Ferlini
Of remarkable interest are disintegrin and metalloproteinase domain-containing protein 12 (ADAM12), brother-of-CDON (cell adhesion molecule-related/downregulated by oncogenes-CDON) (BOC), cysteine and glycine-rich protein 3 (CSRP3) and growth/cell differentiation regulating factors (GDF11 and GDF8), which are all involved in myogenesis and muscle development. ADAM12, BOC, and CSRP3 are significantly elevated in DMD patients that have never been treated with CS, compared to controls; among them, ADAM12 was the only marker that showed a decrease after CS treatment [11]. Similarly, proteins involved in energy metabolism, such as myosin light chain 3 (MYL3), carbonic anhydrase III (CA3), mitochondrial malate dehydrogenase 2 (MDH2), and electron transfer flavoprotein A (ETFA) showed altered serum and/or plasma levels in DMD patients compared to controls or DMD female carriers [13].
Duchenne Muscular Dystrophy: recent advances in protein biomarkers and the clinical application
Published in Expert Review of Proteomics, 2020
One of the muscle-specific proteins released into the blood stream of DMD patients is creatine kinase (CK). CK is elevated in DMD patients and declines as the diseases progresses [36,84,97,98]. Its increased activity has also been used as an indicator of muscle damage in clinical practice [71]. As a biomarker, serum CK is influenced by other factors than the disease, as shown in both DMD patients and mouse model studies [99–101]. Alone CK is not specific enough to be used as a diagnostic or prognostic biomarker [102]. However, CK has been used for new born screening to facilitate early detection of muscle injury diseases as DMD [103–105]. Beside CK, several proteomics studies performed in the context of DMD, reported elevated blood levels of other muscle-specific proteins eg. carbonic anhydrase 3 (CA3), malate dehydrogenase 2 (MDH2), myosin light chain 3 (MYL3), cardiac muscle troponin I (TNNI3), titin (TTN) and proteins involved in energy metabolism eg. beta enolase, fructose-bisphosphate aldolase, electron transfer flavoprotein A, fibrosis eg. fibronectin and inflammation eg. interleukin [46,64,106] (Table 1).