Proteomics in Inherited Metabolic Disorders DOI Open Access
María del Pilar Chantada‐Vázquez, Susana B. Bravo, Sofía Gouveia

и другие.

International Journal of Molecular Sciences, Год журнала: 2022, Номер 23(23), С. 14744 - 14744

Опубликована: Ноя. 25, 2022

Inherited metabolic disorders (IMD) are rare medical conditions caused by genetic defects that interfere with the body's metabolism. The clinical phenotype is highly variable and can present at any age, although it more often manifests in childhood. number of treatable IMDs has increased recent years, making early diagnosis a better understanding natural history disease important than ever. In this review, we discuss main challenges faced applying proteomics to study IMDs, key advances achieved field using tandem mass spectrometry (MS/MS). This technology enables analysis large numbers proteins different body fluids (serum, plasma, urine, saliva, tears) single each sample, even be applied dried samples. MS/MS thus emerged as tool choice for proteome characterization provided new insights into many diseases biological systems. last 10 sequential window acquisition all theoretical fragmentation spectra (SWATH-MS) an accurate, high-resolution technique identification quantification differentially expressed between healthy controls IMD patients. Proteomics particularly promising approach help obtain information on diseases, including biomarkers aid underlying pathophysiology guide development therapies. Here, summarize emerging proteomic technologies current uses limitations identify quantify proteins. Moreover, describe use mechanisms regulating complex phenotypes; area research essential understand these other human diseases.

Язык: Английский

Liquid Biopsy Proteomics in Ophthalmology DOI Creative Commons
Julian Wolf, Joel A. Franco, Rui Yip

и другие.

Journal of Proteome Research, Год журнала: 2024, Номер 23(2), С. 511 - 522

Опубликована: Янв. 3, 2024

Minimally invasive liquid biopsies from the eye capture locally enriched fluids that contain thousands of proteins highly specialized ocular cell types, presenting a promising alternative to solid tissue biopsies. The advantages include sampling without causing irreversible functional damage, potentially better reflecting heterogeneity, collecting samples in an outpatient setting, monitoring therapeutic response with sequential sampling, and even allowing examination disease mechanisms at level living humans, approach we refer as TEMPO (Tracing Expression Multiple Protein Origins). Liquid biopsy proteomics has potential transform molecular diagnostics prognostics assess personalized strategies individual patients. This review addresses opportunities, challenges, future directions high-resolution ophthalmology, particular emphasis on large-scale collection high-quality samples, cutting edge technology, artificial intelligence-supported data analysis.

Язык: Английский

Процитировано

5

Allergic to bureaucracy? Regulatory allergenicity assessments of novel food: Motivations, challenges, compromises, and possibilities DOI Creative Commons

O. Kedar,

Alexander Golberg, Uri Obolski

и другие.

Comprehensive Reviews in Food Science and Food Safety, Год журнала: 2024, Номер 23(2)

Опубликована: Март 1, 2024

Abstract New sources of proteins are essential to meet the demands growing world population and evolving food trends. Assessing allergenicity in novel (NF) poses a significant safety regulatory challenge. The Codex Alimentarius Commission presented an assessment protocol for genetically modified (GM) foods, which can also be adapted NF. Since no single laboratory test adequately predict allergenic potential NF, follows weight‐of‐evidence approach, evaluated by experts, as part risk management process. Regulatory bodies worldwide have adopted this protocol, which, among other things, promotes global harmonization. This review unravels reliability various motivations, terms, concepts, approaches assessments, aiming enhance understanding manufacturers public. Health Canada, Food Safety JAPAN, Standards Australia Zealand were surveyed, focusing on European Authority US Administration examples scientific opinions regarding assessments GM from 2019 2023. According our findings, current NF approval primarily rely literature reviews. Only few proactively additional tests. We recommend conducting bioinformatic analyses when panel experts deems that there is insufficient prior research.

Язык: Английский

Процитировано

5

Crossing the Halfway Point: Aptamer-Based, Highly Multiplexed Assay for the Assessment of the Proteome DOI Creative Commons
S. Kraemer, Daniel J. Schneider, Clare Paterson

и другие.

Journal of Proteome Research, Год журнала: 2024, Номер 23(11), С. 4771 - 4788

Опубликована: Июль 22, 2024

Measuring responses in the proteome to various perturbations improves our understanding of biological systems. The value information gained from such studies is directly proportional number proteins measured. To overcome technical challenges associated with highly multiplexed measurements, we developed an affinity reagent-based method that uses aptamers protein-like side chains along assay takes advantage their unique properties. As hybrid reagents, modified are fully comparable antibodies terms binding characteristics toward proteins, including epitope size, shape complementarity, and specificity. Our combines these intrinsic properties serial kinetic proofreading steps allow effective partitioning stable specific complexes unstable nonspecific complexes. use orthogonal methods enhance specificity effectively overcomes severe limitation multiplexing inherent sandwich-based methods. currently measures half encoded human genome femtomolar sensitivity, broad dynamic range exceptionally high reproducibility. Using machine learning identify patterns change, have tests based on measurement multiple predictive current health states future disease risk guide a holistic approach precision medicine.

Язык: Английский

Процитировано

5

The ROSMAP project: aging and neurodegenerative diseases through omic sciences DOI Creative Commons

Alejandra P. Pérez-González,

Aidee Lashmi García-Kroepfly,

Keila Adonai Pérez-Fuentes

и другие.

Frontiers in Neuroinformatics, Год журнала: 2024, Номер 18

Опубликована: Сен. 16, 2024

The Religious Order Study and Memory Aging Project (ROSMAP) is an initiative that integrates two longitudinal cohort studies, which have been collecting clinicopathological molecular data since the early 1990s. This extensive dataset includes a wide array of omic data, revealing complex interactions between levels in neurodegenerative diseases (ND) aging. Neurodegenerative are frequently associated with morbidity cognitive decline older adults. Omics research, conjunction clinical variables, crucial for advancing our understanding diagnosis treatment diseases. summary reviews omics research—encompassing genomics, transcriptomics, proteomics, metabolomics, epigenomics, multiomics—conducted through ROSMAP study. It highlights significant advancements mechanisms underlying diseases, particular focus on Alzheimer's disease.

Язык: Английский

Процитировано

5

Proteomics in Inherited Metabolic Disorders DOI Open Access
María del Pilar Chantada‐Vázquez, Susana B. Bravo, Sofía Gouveia

и другие.

International Journal of Molecular Sciences, Год журнала: 2022, Номер 23(23), С. 14744 - 14744

Опубликована: Ноя. 25, 2022

Inherited metabolic disorders (IMD) are rare medical conditions caused by genetic defects that interfere with the body's metabolism. The clinical phenotype is highly variable and can present at any age, although it more often manifests in childhood. number of treatable IMDs has increased recent years, making early diagnosis a better understanding natural history disease important than ever. In this review, we discuss main challenges faced applying proteomics to study IMDs, key advances achieved field using tandem mass spectrometry (MS/MS). This technology enables analysis large numbers proteins different body fluids (serum, plasma, urine, saliva, tears) single each sample, even be applied dried samples. MS/MS thus emerged as tool choice for proteome characterization provided new insights into many diseases biological systems. last 10 sequential window acquisition all theoretical fragmentation spectra (SWATH-MS) an accurate, high-resolution technique identification quantification differentially expressed between healthy controls IMD patients. Proteomics particularly promising approach help obtain information on diseases, including biomarkers aid underlying pathophysiology guide development therapies. Here, summarize emerging proteomic technologies current uses limitations identify quantify proteins. Moreover, describe use mechanisms regulating complex phenotypes; area research essential understand these other human diseases.

Язык: Английский

Процитировано

22