Research Topic

Mitochondrial Bioenergetics Impairments in Genetic and Metabolic Diseases

About this Research Topic

The aim of this Research Topic is to highlight how different genetic and metabolic diseases converge in mitochondrial bioenergetic dysfunctions that are at the basis, or strongly involved, in pathogenetic mechanisms.

Mitochondria represent the powerhouse of the cells providing energy through a complex series of bioenergetic reactions that ultimately lead to the production of ATP. In addition, they are involved in the catabolism of carbohydrates, lipids, and amino acids as well as other waste molecules, in maintaining cellular redox homeostasis, generating biosynthetic precursors for macromolecules, and orchestrating processes such as autophagy and apoptosis. All these functions, together with the considerable resources that a cell must provide to maintain mitochondrial integrity and function, underscore their essential role and provide a rationale for their involvement in many pathologies. For these reasons, mitochondrial dysfunction is increasingly associated with inherited human disorders and linked to diseases characterized by metabolic imbalances, such as metabolic syndrome, diabetes, and obesity.

Bioenergetic defects are displayed as decreased energy supply or oxidative stress but may also arise as a consequence of alterations in homeostatic processes such as biogenesis, dynamics, mitophagy and communication with other organelles, the malfunction of which has deleterious effects at the cellular level. We seek to collect experimental studies supporting descriptions of defined mechanisms and physiological responses underlying metabolic diseases together with studies of phenotypic features of gene mutations directly or indirectly affecting mitochondrial bioenergetics or connected processes. In our opinion, these types of experimental studies are a pivotal step necessary to generate innovative and personalized therapeutic strategies.

We welcome original scientific papers and review articles that deal with mitochondrial involvement in genetic and metabolic diseases. The goal of this Research Topic is to elucidate the mechanisms underlying alterations in bioenergetics, metabolism, redox homeostasis, mitochondria-ER cross-talk, mitochondrial biogenesis, and mitophagy. This Research Topic wants to provide a rational basis to develop strategies and therapeutic interventions in mitochondrial-related pathologies.


Keywords: mitochondria, bioenergetics, metabolic impairment, inherited human disorders


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

The aim of this Research Topic is to highlight how different genetic and metabolic diseases converge in mitochondrial bioenergetic dysfunctions that are at the basis, or strongly involved, in pathogenetic mechanisms.

Mitochondria represent the powerhouse of the cells providing energy through a complex series of bioenergetic reactions that ultimately lead to the production of ATP. In addition, they are involved in the catabolism of carbohydrates, lipids, and amino acids as well as other waste molecules, in maintaining cellular redox homeostasis, generating biosynthetic precursors for macromolecules, and orchestrating processes such as autophagy and apoptosis. All these functions, together with the considerable resources that a cell must provide to maintain mitochondrial integrity and function, underscore their essential role and provide a rationale for their involvement in many pathologies. For these reasons, mitochondrial dysfunction is increasingly associated with inherited human disorders and linked to diseases characterized by metabolic imbalances, such as metabolic syndrome, diabetes, and obesity.

Bioenergetic defects are displayed as decreased energy supply or oxidative stress but may also arise as a consequence of alterations in homeostatic processes such as biogenesis, dynamics, mitophagy and communication with other organelles, the malfunction of which has deleterious effects at the cellular level. We seek to collect experimental studies supporting descriptions of defined mechanisms and physiological responses underlying metabolic diseases together with studies of phenotypic features of gene mutations directly or indirectly affecting mitochondrial bioenergetics or connected processes. In our opinion, these types of experimental studies are a pivotal step necessary to generate innovative and personalized therapeutic strategies.

We welcome original scientific papers and review articles that deal with mitochondrial involvement in genetic and metabolic diseases. The goal of this Research Topic is to elucidate the mechanisms underlying alterations in bioenergetics, metabolism, redox homeostasis, mitochondria-ER cross-talk, mitochondrial biogenesis, and mitophagy. This Research Topic wants to provide a rational basis to develop strategies and therapeutic interventions in mitochondrial-related pathologies.


Keywords: mitochondria, bioenergetics, metabolic impairment, inherited human disorders


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

30 September 2021 Abstract
11 January 2022 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

30 September 2021 Abstract
11 January 2022 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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