The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review
Abstract
:1. Introduction
2. Case Report
3. Materials and Methods
3.1. Morphologic and Biochemical Analysis
3.2. Molecular Genetic Analysis
3.3. Western Blot Analysis
4. Results
5. Discussion
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Locus | Mutation | Homoplasmy | Heteroplasmy | Status | MitoTIP | Disease | First Report |
---|---|---|---|---|---|---|---|
MT-COI/ MT-TS1 precursor | m.7443A>G | + | - | Reported | - | Hearing loss | Pandya et al., 1999 [13] |
MT-COI/ MT-TS1 precursor | m.7444G>A | + | - | Reported | - | Aminoglycoside-induced deafness and non syndromic hearing loss | Zhu et al., 2006 [12] |
m.7444G>A (with m.3460G>A or m.14484T>C) | LHON | Brown et al., 1995 [25] | |||||
m.7444G>A (with m.1555A>G) | Hearing loss | Pandya et al., 1999 [13] | |||||
Aminoglycoside-induced deafness | Yuan et al., 2005 [26] | ||||||
m.7444G>A (with m.1494C>T) | Aminoglycoside-induced and non syndromic hearing loss | Yuan et al., 2007 [27] | |||||
m.7444G>A (with m.6498C>A) | Non syndromic hearing loss, diabetes and congenital visual loss | Mkaouar-Rebai et al., 2013 [28] | |||||
MT-TS1 precursor | m.7445A>C | + | - | Reported | - | Hearing loss | Pandya et al., 1999 [13] |
MT-TS1 precursor | m.7445A>G | + | + | Confirmed | - | Sensorineural hearing loss | Reid et al., 1994 [14] |
Progressive hearing loss and palmoplantar keratoderma | Sevior et al., 1998 [29] | ||||||
Sensorineural deafness and NEPPK | Martin et al., 2000 [30] | ||||||
MT-TS1 precursor | m.7445A>T | + | - | Reported | - | Sensorineural hearing loss | Chen et al., 2008 [31] |
MT-TS1 | m.7451A>T | - | + | Reported | 80.70% | C-PEO, ptosis | Blakely et al., 2013 [32] |
MT-TS1 | m.7453G>A | + | - | Reported | 68.00% | Fatal neonatal lactic acidosis | Gotz et al., 2012 [33] |
Neonatal lactic acidosis, exercise intolerance, mild ID | Riley et al., 2020 [34] | ||||||
MT-TS1 | m.7456A>G | + | - | Unclear | 16.00% | Deafness | Jacobs et al., 2005 [35] |
MT-TS1 | m.7458G>A | - | + | Reported | 86.00% | PEO | Souilem et al., 2010 [36] |
MT-TS1 | m.7462C>T | + | - | Reported | 11.20% | Hearing loss | Uehara et al., 2010 [37] |
MT-TS1 | m.7471del | nd | nd | Reported | 4.30% | Maternally inherited hypertension | Yang et al., 2020 [38] |
Deafness | Tang et al., 2015 [39] | ||||||
MT-TS1 | m.7471_7472insC (reported as m.7472insC) | + | + | Confirmed | - | Hearing loss, ataxia, dysarthria and, occasionally, peripheral sensory neuropathy and focal myoclonus | Tiranti et al., 1995 [40] |
Sensorineural hearing loss, myoclonic epilepsy, ataxia, MR | Jaksch et al., 1998 [19] | ||||||
Epilepsia partialis continua, ataxia, lactic acidosis, myopathy, sensorineural hearing loss, severe headaches, and MR | Schuelke et al., 1998 [20] | ||||||
Non syndromic sensorineural hearing loss and monomelic amyotrophic | Fetoni et al., 2004 [41] | ||||||
Non syndromic sensorineural hearing loss | Hutchin et al., 2001 [42] | ||||||
MT-TS1 | m.7472A>C (with m.7471_7472insC) | + | + | Reported | 3.2% | Early onset myopathy and execise intollerance | Pulkes et al., 2005 [43] |
Bilateral hearing loss, MR, fatal neurodegeneration with cognitive decline, epilepsia partialis continua, myopathy, lactic acidosis and ataxia | Cardaioli et al., 2006 [44] | ||||||
MT-TS1 | m.7474A>G | nd | nd | Reported | 0.00% | Hearing loss | Zheng et al., 2020 [45] |
MT-TS1 | m.7474del | nd | nd | Reported | 34.80% | Hearing loss and epilepsy | Zhao et al., 2008 [18] |
MT-TS1 | m.7480T>C | - | + | Reported | 46.60% | Progressive mitochondrial myopathy, deafness, dementia and ataxia | Bidooki et al., 2004 [46] |
MT-TS1 | m.7486G>A | - | + | Reported | 50.50% | C-PEO | Bacalhau et al., 2018 [47] |
MT-TS1 | m.7492C>T | + | - | Reported | 0.10% | Hypertension | Liu et al., 2014 [22] |
Hearing loss | Peng et al., 2020 [48] | ||||||
Polycystic ovary syndrome-insulin resistance | Dyng et al., 2017 [24] | ||||||
MT-TS1 | m.7496T>C | nd | nd | Reported | 58.30% | Hearing Loss | Tang et al., 2015 [39] |
MT-TS1 | m.7497G>A | + | + | Confirmed | Pathogenic | Severe progressive myopathy, muscle weakness and increase exercise intolerance | Jaksch et al., 1998 [7] |
Exercise intolerance, muscle pain and lactic acidemia | Grafakou et al., 2003 [49] | ||||||
Muscular weakness, atrophy and severe dystrophic myopathy | Muller et al., 2005 [50] | ||||||
MT-TS1 | m.7501T>A | nd | nd | Reported | 1.90% | Cardiovascular disease | Zaragoza et al., 2010 [21] |
Renal disease patient | Imasawa et al., 2014 [23] | ||||||
MT-TS1 | m.7502C>T | nd | nd | Reported | 8.20% | Tic disorder | Jiang et al., 2020 [51] |
MT-TS1 | m.7505T>C | + | - | Reported | 58.60% | Maternally inherited hearing loss | Tang et al., 2010 [52] |
MT-TS1 | m.7506G>A | - | + | Reported | 81.40% | PEO and hearing loss | Cardaioli et al., 2007 [17] |
MT-TS1 | m.7507A>G | + | - | Reported | - | Cardio-respiratory failure and fatal lactic acidosis, severe hearing loss and progressive exercise intolerance | McCann et al., 2015 [53] |
MT-TS1 | m.7510T>C | - | + | Confirmed | Pathogenic | Non syndromic sensorineural hearing loss | Hutchin et al., 2000 [15] |
MT-TS1 | m.7511T>C | + | + | Confirmed | Pathogenic | Non syndromic hearing loss | Sue et al., 1999 [16] |
MT-TS1 | m.7512T>C | + | + | Reported | 64.20% | MERRF/MELAS overlap syndrome | Nakamura et al., 1995 [54] |
Sensorineural hearing loss, myoclonic epilepsy, ataxia, MR | Jaksch et al., 1998 [19] | ||||||
Sensorineural hearing loss, myoclonus epilepsy, ataxia, severe psychomotor retardation, short stature, and diabetes mellitus | Ramelli et al., 2006 [55] | ||||||
MELAS syndrome | Lindberg et al., 2008 [56] |
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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
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 StyleBorgione, 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