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Role of Tandem Mass Spectrometry in Diagnosis and Management of Inborn Errors of Metabolism
Published in P. Mereena Luke, K. R. Dhanya, Didier Rouxel, Nandakumar Kalarikkal, Sabu Thomas, Advanced Studies in Experimental and Clinical Medicine, 2021
Kannan Vaidyanathan, Sandhya Gopalakrishnan
NPC1, a trans-membrane protein involved in lysosomal cholesterol transport and NPC2, an intra-lysosomal cholesterol transport protein are recognized to be involved in Niemann-Pick C (NPC) disease. Proteomic study of lysosomal proteins led to the understanding of a number of proteins involved in lipid metabolism like prosaposin and beta-hexosaminidase subunits, as well as proteases and glycosidases. Further studies may disclose the role of these proteins in pathogenesis of NPC [63].
Metachromatic leukodystrophy
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
The molecular biology of the saposin B activator has also been clarified. A prosaposin precursor gene directs the synthesis of a precursor protein from which the individual saposins are derived [101]. Mutations have been identified including a C-to-T transition leading to a substitution of isoleucine for threonine that eliminates a glycosylation site with a neighboring asparagine [102] in the original family of Shapiro and colleagues [11].
Histiocytosis and Lipid Storage Diseases
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Salwa Shabbir Sheikh, David F. Garvin
Gaucher’s disease is the most common lysosomal storage disease, characterized by accumulation of glucocerebroside, leading to organomegaly and lesions in the bone. It is caused by an inherited deficiency of glucocerebrosidase or b-glucosidase enzyme deficiency. Rare examples of mutations at the activator or prosaposin locus lead to Gaucher’s disease-like phenotype with accumulation of glycosylceramide. (The saposins activate the enzyme glucocerebrosidase.) Gaucher’s is the most prevalent Jewish genetic disease, with an autosomal recessive mode of inheritance resulting almost exclusively from mutations in the gene encoding the enzyme glucocerebrosidase. Many mutations exist, but four of them account for more than 97% of the mutations in Ashkenazi Jews. At least 1 of 50 Jews may be a heterozygote. Both human acid b-glucosidase gene and its nonprocessed pseudogene are located on chromosome 1.
The development and clinical applications of proteomics: an Indian perspective
Published in Expert Review of Proteomics, 2020
Khushman Taunk, Bhargab Kalita, Vaikhari Kale, Venkatesh Chanukuppa, Tufan Naiya, Surekha M. Zingde, Srikanth Rapole
Clinical proteomics research has yielded several candidate biomarkers in diverse diseases. Nevertheless, the success of the transfer of this information from lab to clinics for the designing of potent drugs and/or management of these diseases is negligible. In this context, protein arrays are perfectly placed for the high-throughput screening of drug libraries to identify potential candidates that can specifically target these biomarkers. In India, the use of protein microarrays was started by Dr. Sanjeeva Srivastava in the proteomics lab at IIT-B, Mumbai where his team used protein microarrays for profiling autoantibodies in medulloblastoma and glioblastoma and biomarker identification in infectious diseases [22]. Tissue microarray, a variant of protein microarray that contains patient-specific tissue sections was used for profiling various cancers by a research group led by Dr. Sanjay Navani from Lab Surgpath, Mumbai. This technique was extended to validate biomarkers such as prosaposin, transgelin, and protein disulfide isomerase A 4 in gallbladder cancer and esophageal squamous cell carcinoma [71,72]. Therefore, microarrays hold tremendous potential for screening drugs and biomarker validation, the two important aspects of clinical research.
Prostate cancer proteomics: clinically useful protein biomarkers and future perspectives
Published in Expert Review of Proteomics, 2018
Paula Intasqui, Ricardo P. Bertolla, Marcus Vinicius Sadi
A few different studies set out to compare BPH and prostate cancer urinary protein profiles, in search for a diagnostic panel. By applying an iTRAQ LC-MS/MS approach, 25 differentially expressed proteins were identified, with significant increase in beta-2-microglobulin (B2M), pepsin A-3 (PGA3), and mucin-3 (MUC3) expression. When all three biomarkers were used in a logistic regression model, an AUC of 0.710 was obtained, which was improved when PSA values were added to the model (AUC of 0.810) [54]. In another study, protein AMBP fragment 1 (AMBPf1) and prosaposin (PSAP) expression did not vary between BPH and prostate cancer, but was decreased compared to controls. On the other hand, AMBP fragment 2 (AMBPf2) was decreased in prostate cancer, compared both to controls and BPH, whereas inter-alpha-trypsin inhibitor heavy chain H4 (ITIH4) was higher in prostate cancer compared to the other groups [55]. A third study observed that osteopontin (SPP1) and prothrombin (F2) levels were strongly decreased in men with prostate cancer compared to BPH samples, and pyridinoline (PYD) and deoxypyridinoline (DPD) levels, protein cross-linking molecules, were higher in patients with locally advanced or metastatic cancer [56].
A Review on the Application of Stem Cell Secretome in the Protection and Regeneration of Retinal Ganglion Cells; a Clinical Prospect in the Treatment of Optic Neuropathies
Published in Current Eye Research, 2022
Fatemeh Sanie-Jahromi, Ahmad Mahmoudi, Mohammad Reza Khalili, M. Hossein Nowroozzadeh
Neuroprotective proteins and exosomes are one of the most important contents of stem cell-derived secretome, and in recent years many studies have been performed on the effect of MSCs secretome on neural cell injury. For example, Li et al. reported that mouse bone marrow stromal cell-derived neural progenitor cells (mMSC-NPC) secretome is rich in prosaposin, which reduces apoptosis in injured mature neurons.16 The MSCs-derived secretome was also tried for RGC neuroprotection or neuroregeneration (Figure 1).17 This study aimed to review the cellular sources that have been used to prepare the secretome for the protection and regeneration of RGC cells.