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10.3390/life13020554
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Review

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review

by
Eugenia Borgione
1,
Mariangela Lo Giudice
1,
Sandro Santa Paola
1,
Marika Giuliano
1,
Francesco Domenico Di Blasi
2,
Vincenzo Di Stefano
3,*,
Antonino Lupica
3,
Filippo Brighina
3,
Rosa Pettinato
4,
Corrado Romano
5,6 and
Carmela Scuderi
1
1
Unit of Neuromuscular Diseases, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy
2
Unit of Psychology, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy
3
Unit of Neurophysiopathology, Department of Biomedicine, Neuroscience, and Advanced Diagnostics (BiND), University of Palermo, 90129 Palermo, Italy
4
Unit of Pediatrics and Medical Genetics, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy
5
Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy
6
Medical Genetics, Section of Medical Biochemistry, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy
*
Author to whom correspondence should be addressed.
Life 2023, 13(2), 554; https://doi.org/10.3390/life13020554
Submission received: 3 January 2023 / Revised: 26 January 2023 / Accepted: 14 February 2023 / Published: 16 February 2023
(This article belongs to the Special Issue Mitochondrial DNA Genetic Diversity)
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Abstract

Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A>G mutation in the tRNASer(UCN) gene affecting the third base of the anticodon triplet in a girl with profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, a clinical history of epilepsia partialis continua and vomiting, typical of MELAS syndrome, leading to a myoclonic epilepticus status, and myopathy with severe COX deficiency at muscle biopsy. The mutation was also found in the homoplasmic condition in the mother who presented with mild cognitive deficit, cerebellar ataxia, myoclonic epilepsy, sensorineural hearing loss and myopathy with COX deficient ragged-red fibers consistent with MERRF syndrome. This is the first anticodon mutation in the tRNASer(UCN) and the second homoplasmic mutation in the anticodon triplet reported to date.
Keywords: mitochondrial DNA; tRNASer(UCN); homoplasmic mutation; encephalomyopathy mitochondrial DNA; tRNASer(UCN); homoplasmic mutation; encephalomyopathy

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MDPI and ACS Style

Borgione, E.; Lo Giudice, M.; Santa Paola, S.; Giuliano, M.; Di Blasi, F.D.; Di Stefano, V.; Lupica, A.; Brighina, F.; Pettinato, R.; Romano, C.; et al. The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review. Life 2023, 13, 554. https://doi.org/10.3390/life13020554

AMA Style

Borgione E, Lo Giudice M, Santa Paola S, Giuliano M, Di Blasi FD, Di Stefano V, Lupica A, Brighina F, Pettinato R, Romano C, et al. The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review. Life. 2023; 13(2):554. https://doi.org/10.3390/life13020554

Chicago/Turabian Style

Borgione, Eugenia, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Francesco Domenico Di Blasi, Vincenzo Di Stefano, Antonino Lupica, Filippo Brighina, Rosa Pettinato, Corrado Romano, and et al. 2023. "The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review" Life 13, no. 2: 554. https://doi.org/10.3390/life13020554

APA Style

Borgione, E., Lo Giudice, M., Santa Paola, S., Giuliano, M., Di Blasi, F. D., Di Stefano, V., Lupica, A., Brighina, F., Pettinato, R., Romano, C., & Scuderi, C. (2023). The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review. Life, 13(2), 554. https://doi.org/10.3390/life13020554

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