From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease
Summary: Mitochondrial (mt) dysfunction is linked to rare diseases (RDs) such as respiratory chain complex (RCC) deficiency, MELAS, and ARSACS. Yet, how altered mt protein networks contribute to these ailments remains understudied. In this perspective article, we identified 21 mt proteins from publi...
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doaj-ace72ec956f0447a9b3f72cb48f18ede2021-02-21T04:34:59ZengElsevieriScience2589-00422021-02-01242102030From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human diseaseKhaled A. Aly0Mohamed Taha Moutaoufik1Sadhna Phanse2Qingzhou Zhang3Mohan Babu4Department of Biochemistry, University of Regina, Regina, SK, CanadaDepartment of Biochemistry, University of Regina, Regina, SK, CanadaDepartment of Biochemistry, University of Regina, Regina, SK, CanadaDepartment of Biochemistry, University of Regina, Regina, SK, CanadaDepartment of Biochemistry, University of Regina, Regina, SK, Canada; Corresponding authorSummary: Mitochondrial (mt) dysfunction is linked to rare diseases (RDs) such as respiratory chain complex (RCC) deficiency, MELAS, and ARSACS. Yet, how altered mt protein networks contribute to these ailments remains understudied. In this perspective article, we identified 21 mt proteins from public repositories that associate with RCC deficiency, MELAS, or ARSACS, engaging in a relatively small number of protein-protein interactions (PPIs), underscoring the need for advanced proteomic and interactomic platforms to uncover the complete scope of mt connectivity to RDs. Accordingly, we discuss innovative untargeted label-free proteomics in identifying RD-specific mt or other macromolecular assemblies and mapping of protein networks in complex tissue, organoid, and stem cell-differentiated neurons. Furthermore, tag- and label-based proteomics, genealogical proteomics, and combinatorial affinity purification-mass spectrometry, along with advancements in detecting and integrating transient PPIs with single-cell proteomics and transcriptomics, collectively offer seminal follow-ups to enrich for RD-relevant networks, with implications in RD precision medicine.http://www.sciencedirect.com/science/article/pii/S258900422031227XDiseaseSystems BiologyProteomicsComplex Systems |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Khaled A. Aly Mohamed Taha Moutaoufik Sadhna Phanse Qingzhou Zhang Mohan Babu |
spellingShingle |
Khaled A. Aly Mohamed Taha Moutaoufik Sadhna Phanse Qingzhou Zhang Mohan Babu From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease iScience Disease Systems Biology Proteomics Complex Systems |
author_facet |
Khaled A. Aly Mohamed Taha Moutaoufik Sadhna Phanse Qingzhou Zhang Mohan Babu |
author_sort |
Khaled A. Aly |
title |
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease |
title_short |
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease |
title_full |
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease |
title_fullStr |
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease |
title_full_unstemmed |
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease |
title_sort |
from fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease |
publisher |
Elsevier |
series |
iScience |
issn |
2589-0042 |
publishDate |
2021-02-01 |
description |
Summary: Mitochondrial (mt) dysfunction is linked to rare diseases (RDs) such as respiratory chain complex (RCC) deficiency, MELAS, and ARSACS. Yet, how altered mt protein networks contribute to these ailments remains understudied. In this perspective article, we identified 21 mt proteins from public repositories that associate with RCC deficiency, MELAS, or ARSACS, engaging in a relatively small number of protein-protein interactions (PPIs), underscoring the need for advanced proteomic and interactomic platforms to uncover the complete scope of mt connectivity to RDs. Accordingly, we discuss innovative untargeted label-free proteomics in identifying RD-specific mt or other macromolecular assemblies and mapping of protein networks in complex tissue, organoid, and stem cell-differentiated neurons. Furthermore, tag- and label-based proteomics, genealogical proteomics, and combinatorial affinity purification-mass spectrometry, along with advancements in detecting and integrating transient PPIs with single-cell proteomics and transcriptomics, collectively offer seminal follow-ups to enrich for RD-relevant networks, with implications in RD precision medicine. |
topic |
Disease Systems Biology Proteomics Complex Systems |
url |
http://www.sciencedirect.com/science/article/pii/S258900422031227X |
work_keys_str_mv |
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