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Mitochondrial DNA transcription and translation: clinical syndromes

Lookup NU author(s): Dr Veronika Boczonadi, Giulia Ricci, Professor Rita HorvathORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although, defective oxidative phosphorylation (OXPHOS) is the common final pathway, it is unknown why different mtDNA or nuclear mutations result in largely heterogeneous and often tissue -specific clinical presentations. Mitochondrial tRNA (mt-tRNA) mutations are frequent causes of mitochondrial diseases both in children and adults. However numerous nuclear mutations involved in mitochondrial protein synthesis affecting ubiquitously expressed genes have been reported in association with very tissue specific clinical manifestations suggesting that there are so far unknown factors determining the tissue specificity in mitochondrial translation. Most of these gene defects result in histological abnormalities and multiple respiratory chain defects in the affected organs. The clinical phenotypes are usually early-onset, severe, and often fatal, implying the importance of mitochondrial translation from birth. However, some rare, reversible infantile mitochondrial diseases are caused by very specific defects of mitochondrial translation. An unbiased genetic approach (whole exome sequencing, RNA sequencing) combined with proteomics and functional studies revealed novel factors involved in mitochondrial translation which contribute to the clinical manifestation and recovery in these rare reversible mitochondrial conditions.

Publication metadata

Author(s): Boczonadi V, Ricci G, Horvath R

Publication type: Article

Publication status: Published

Journal: Essays in Biochemistry

Year: 2018

Volume: 62

Issue: 3

Pages: 321-340

Print publication date: 20/07/2018

Online publication date: 06/07/2018

Acceptance date: 21/05/2018

Date deposited: 12/07/2018

ISSN (print): 0071-1365

ISSN (electronic): 1744-1358

Publisher: Portland Press


DOI: 10.1042/EBC20170103

PubMed id: 29980628


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Funder referenceFunder name
109915/Z/15/ZWellcome Trust
201064/Z/16/ZWellcome Trust
203105/Z/16/ZWellcome Trust
MR/N025431/1Medical Research Council (MRC)