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The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence

Authors :
Allison Hanaford
Simon C. Johnson
Source :
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Publication Year :
2022
Publisher :
BMC, 2022.

Abstract

Abstract Background Genetic mitochondrial diseases represent a significant challenge to human health. These diseases are extraordinarily heterogeneous in clinical presentation and genetic origin, and often involve multi-system disease with severe progressive symptoms. Mitochondrial diseases represent the most common cause of inherited metabolic disorders and one of the most common causes of inherited neurologic diseases, yet no proven therapeutic strategies yet exist. The basic cell and molecular mechanisms underlying the pathogenesis of mitochondrial diseases have not been resolved, hampering efforts to develop therapeutic agents. Main body In recent pre-clinical work, we have shown that pharmacologic agents targeting the immune system can prevent disease in the Ndufs4(KO) model of Leigh syndrome, indicating that the immune system plays a causal role in the pathogenesis of at least this form of mitochondrial disease. Intriguingly, a number of case reports have indicated that immune-targeting therapeutics may be beneficial in the setting of genetic mitochondrial disease. Here, we summarize clinical and pre-clinical evidence suggesting a key role for the immune system in mediating the pathogenesis of at least some forms of genetic mitochondrial disease. Conclusions Significant clinical and pre-clinical evidence indicates a key role for the immune system as a significant in the pathogenesis of at least some forms of genetic mitochondrial disease.

Details

Language :
English
ISSN :
17501172
Volume :
17
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Orphanet Journal of Rare Diseases
Publication Type :
Academic Journal
Accession number :
edsdoj.5548eef25fa543c1a226f5a3db5e5730
Document Type :
article
Full Text :
https://doi.org/10.1186/s13023-022-02495-3