From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease

Aly, Khaled A.; Moutaoufik, Mohamed Taha; Phanse, Sadhna; Zhang, Qingzhou; Babu, Mohan

doi:10.1016/j.isci.2020.102030

Cited by 6 publications

(2 citation statements)

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“…Areas such as single-cell transcriptomics [41], proteomics, or quantitative omics, with the advent of mass spectrometry [42], can improve our understanding of the ARSACS pathophysiology. The ongoing effort in identifying SACS mutation loci, frequency, and the types of mutations (Figure 4a) [43] can expand the repertoire linking SACS mutations to disease phenotypes.…”

Section: Multilayered Omics In Understanding the Arsacs Molecular Mec...mentioning

confidence: 99%

Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆

Aly

Moutaoufik

Zilocchi

et al. 2022

Current Opinion in Chemical Biology

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Section: Multilayered Omics In Understanding the Arsacs Molecular Mec...mentioning

confidence: 99%

Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆

Aly

Moutaoufik

Zilocchi

et al. 2022

Current Opinion in Chemical Biology

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“…(1) stable isotope labeling techniques; and (2) label-free methods. Despite each of these techniques having its own pros and cons in the evaluation of the human proteome (DeSouza and Siu, 2013;Aly et al, 2021), the rapidly evolving field of precision medicine has driven the development of the approach known as protein Quantitative Trait Loci (pQTLs) (Ye et al, 2020), which is able to correlate the genetic variant with the protein abundance and the relative clinical trait or disease risk, thus elucidating the causal role of that protein in a specific disease state. Wu and colleagues, for example, used isobaric tandem mass tag-based quantitative mass spectrometry to determine protein levels of~6,000 genes in lymphoblastoid cell lines (LCLs) from 95 ethnically diverse individuals genotyped in the HapMap Project, leading to a discovery of numerous cis-pQTLs across the genome, whose allelic alterations were significantly associated with protein abundance of their neighboring genes in LCLs (Wu et al, 2013).…”

Section: Determining Mutational Consequences In Altering Protein Abundancementioning

confidence: 99%

A panoramic view of proteomics and multiomics in precision health

et al. 2021

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Health is often qualitatively defined as a status free from disease and its quantitative definition requires finding the boundary separating health from pathological conditions. Since many complex diseases have a strong genetic component, substantial efforts have been made to sequence large-scale personal genomes; however, we are not yet able to effectively quantify health status from personal genomes. Since mutational impacts are ultimately manifested at the protein level, we envision that introducing a panoramic proteomic view of complex diseases will allow us to mechanistically understand the molecular etiologies of human diseases. In this perspective article, we will highlight key proteomic approaches to identify pathogenic mutations and map their convergent pathways underlying disease pathogenesis and the integration of omics data at multiple levels to define the borderline between health and disease.

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Protein expression profiling of rat uteruses with primary dysmenorrhea syndrome

Xie

Qian

2021

Arch Gynecol Obstet

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Purpose The aim of this study was to investigate differentially expressed proteins (DEPs) and their functions in the uteruses of primary dysmenorrhea (PD) rats by using label-free quantitative proteomics analysis.Methods The PD rat model was induced by injecting both estradiol benzoate and oxytocin. Twenty rats were equally divided into two groups: a control group (normal rats), a PD model group (PD rats). Writhing scores and serum levels of Prostaglandin E2 (PGE2) and Prostaglandin F2α (PGF2α) were used to evaluate the success of the rat PD model. The DEPs were identi ed and analyzed by label-free quantitative proteomics and bioinformatics analyses.Results A total of 276 DEPs were identi ed, including 119 up-regulated DEPs and 157 down-regulated DEPs. Bioinformatics revealed that the DEPs were mainly associated with 'protein binding', 'metabolism', 'signal conduction' and 'focal adhesion'. The proteomic ndings were veri ed by western blot analysis, which con rmed that myosin light chain kinase (MLCK), heat shock protein 90 AB1 (HSP90AB1), apolipoprotein A1 (Apoa1), p38 MAP kinase, c-Jun N-terminal kinase (JNK), and extracellular signalrelated kinase 1/2 (ERK1/2) were signi cantly differentially expressed in between the control and PD samples.Conclusions These results provide a deeper understanding the molecular pathogenesis of PD. The DEPs found in the present study may provide new ideas for further study of the mechanism of PD and aid the search for biomarkers for early diagnosis and treatment.

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From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease

Cited by 6 publications

References 103 publications

Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆

Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆

A panoramic view of proteomics and multiomics in precision health

Protein expression profiling of rat uteruses with primary dysmenorrhea syndrome

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