Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms

Yazdani, Mazyar

doi:10.1007/s12035-024-03938-7

Mol Neurobiol

2024

DOI: 10.1007/s12035-024-03938-7

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Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms

Mazyar Yazdani

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Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease

Morcillo,

Kabra,

Velasco

et al. 2024

Cell Death Dis

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Genetic mutations causing primary mitochondrial disease (i.e those compromising oxidative phosphorylation [OxPhos]) resulting in reduced bioenergetic output display great variability in their clinical features, but the reason for this is unknown. We hypothesized that disruption of the communication between endoplasmic reticulum (ER) and mitochondria at mitochondria-associated ER membranes (MAM) might play a role in this variability. To test this, we assayed MAM function and ER-mitochondrial communication in OxPhos-deficient cells, including cybrids from patients with selected pathogenic mtDNA mutations. Our results show that each of the various mutations studied indeed altered MAM functions, but notably, each disorder presented with a different MAM “signature”. We also found that mitochondrial membrane potential is a key driver of ER-mitochondrial connectivity. Moreover, our findings demonstrate that disruption in ER-mitochondrial communication has consequences for cell survivability that go well beyond that of reduced ATP output. The findings of a “MAM-OxPhos” axis, the role of mitochondrial membrane potential in controlling this process, and the contribution of MAM dysfunction to cell death, reveal a new relationship between mitochondria and the rest of the cell, as well as providing new insights into the diagnosis and treatment of these devastating disorders.

show abstract

Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease

Morcillo,

Kabra,

Velasco

et al. 2024

Cell Death Dis

View full text Add to dashboard Cite

show abstract

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Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms

Cited by 1 publication

References 149 publications

Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease

Aberrant ER-mitochondria communication is a common pathomechanism in mitochondrial disease

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