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Reversible infantile mitochondrial diseases

Lookup NU author(s): Dr Veronika Boczonadi, Dr Boglarka Bansagi, Professor Rita HorvathORCiD


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Mitochondrial diseases are usually severe and progressive conditions; however, there are rare forms that show remarkable spontaneous recoveries. Two homoplasmic mitochondrial tRNA mutations (m.14674T>C/G in mt-tRNA(Glu)) have been reported to cause severe infantile mitochondrial myopathy in the first months of life. If these patients survive the first year of life by extensive life-sustaining measures they usually recover and develop normally. Another mitochondrial disease due to deficiency of the 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) causes severe liver failure in infancy, but similar to the reversible mitochondrial myopathy, within the first year of life these infants may also recover completely. Partial recovery has been noted in some other rare forms of mitochondrial disease due to deficiency of mitochondrial tRNA synthetases and mitochondrial tRNA modifying enzymes. Here we summarize the clinical presentation of these unique reversible mitochondrial diseases and discuss potential molecular mechanisms behind the reversibility. Understanding these mechanisms may provide the key to treatments of potential broader relevance in mitochondrial disease, where for the majority of the patients no effective treatment is currently available.

Publication metadata

Author(s): Boczonadi V, Bansagi B, Horvath R

Publication type: Article

Publication status: Published

Journal: Journal of Inherited Metabolic Disease

Year: 2015

Volume: 38

Issue: 3

Pages: 427-435

Print publication date: 01/05/2015

Online publication date: 19/11/2014

Acceptance date: 14/10/2014

ISSN (print): 0141-8955

ISSN (electronic): 1573-2665

Publisher: Springer


DOI: 10.1007/s10545-014-9784-6


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Funder referenceFunder name
309548European Research Council
G1000848Medical Research Council (UK)