Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation
Abstract
We report here the characterization of a five-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). Strikingly, this Chinese family displayed high penetrance and expressivity of visual loss. The average age-of-onset of vision loss was 18 years in this family. Nineteen (11 males/8 females) of 29 matrilineal relatives in this family developed visual loss with a wide range of severity, ranging from blindness to normal vision. Sequence analysis of mitochondrial genome in this pedigree revealed the presence of the ND4 G11778A mutation and 44 other variants belonging to Asian haplogroup M7b. The G11778A mutation is present at homoplasmy in matrilineal relatives of this Chinese family. Of other variants, the CO1 G6480A, ND5 T12811C and Cytb A15395G located at highly conserved residues of corresponding polypeptides. In fact, these variants were implicated to be involved in other clinical abnormalities. Here, these variants may act in synergy with the primary LHON-associated G11778A mutation. Thus, the mitochondrial dysfunction caused by the primary ND4 G11778A mutation may be worsened by these mitochondrial variants. The results imply that the G6480A, T12811C and A15395G variants might have a potential modifier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A mutation in this Chinese family.
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Certain nucleotide changes that are not pathogenic per se may modulate the effects of deleterious mtDNA mutations.
“Also, it has been frequently recognised that certain nucleotide changes that are not pathogenic per se may modulate the effects of deleterious mtDNA mutations [84,85].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [85]
Cites
Sequence and organization of the human mitochondrial genome
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,640 · see citing works
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440 · see citing works
Sequence and gene organization of mouse mitochondrial DNA.
Bibb, M., Etten, R. V., Wright, C. T., Walberg, M. W., & Clayton, D. A. (1981) · Cell · doi:10.1016/0092-8674(81)90300-7 · Cited by 1,619 · see citing works
mtDNA mutations increase tumorigenicity in prostate cancer
Petros, J. A., Baumann, A. K., Ruiz‐Pesini, E., Amin, M. B., Sun, C. Q., Hall, J., Lim, S.-D., Issa, M. M., Flanders, W. D., Hosseini, S. H., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0408894102 · Cited by 834 · see citing works
The complete nucleotide sequence of the Xenopus laevis mitochondrial genome.
Roe, B. A., Ma, D. P., Wilson, R. K., & Wong, J. F. (1985) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)39303-1 · Cited by 733 · see citing works
MITOMAP: a human mitochondrial genome database--2004 update
Brandon, M. (2004) · Nucleic Acids Research · doi:10.1093/nar/gki079 · Cited by 568 · see citing works
Gadaleta, G., Pepe, G., Candia, G. D., Quagliariello, C., Sbisà, E., & Saccone, C. (1989) · Journal of Molecular Evolution · doi:10.1007/bf02602930 · Cited by 516 · see citing works
Rieder, M. J. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.4.967 · Cited by 510 · see citing works
The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England
Yu‐Wai‐Man, P., Griffiths, P. G., Brown, D. T., Howell, N., Turnbull, D. M., & Chinnery, P. F. (2003) · The American Journal of Human Genetics · doi:10.1086/346066 · Cited by 485 · see citing works
Torroni, A., Petrozzi, M., D'Urbano, L., Sellitto, D., Zeviani, M., Carrara, F., Carducci, C., Leuzzi, V., Carelli, V., Barboni, P., et al. (1997) · Europe PMC (PubMed Central) · Cited by 417 · see citing works
Newman, N. J., Lott, M. T., & Wallace, D. C. (1991) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)76784-4 · Cited by 403 · see citing works
Kong, Q., Bandelt, H., Sun, C., Yao, Y., Salas, A., Achilli, A., Wang, C., Li, Z., Zhu, C., Wu, S., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl130 · Cited by 391 · see citing works
Mackey, D. A., Oostra, R., Rosenberg, T., Nikoskelainen, E. K., Brontë-Stewart, J., Poulton, J., Harding, A. E., Govan, G. G., Bolhuis, P. A., & Nørby, S. (1996) · PubMed Central · Cited by 339 · see citing works
Brown, M. D., Torroni, A., Reckord, C. L., & Wallace, D. C. (1995) · Human Mutation · doi:10.1002/humu.1380060405 · Cited by 256 · see citing works
High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas.
Liu, V. W. S., Shi, H., Cheung, A., Chiu, P. M., Leung, T., NAGLEY, P., Wong, L. C., & Ngan, H. (2001) · PubMed · Cited by 243 · see citing works
Johns, D. R., & Berman, J. (1991) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(91)91567-v · Cited by 198 · see citing works
Guan, M., Enrı́quez, J. A., Fischel‐Ghodsian, N., Puranam, R. S., Lin, C. P., Maw, M. A., & Attardi, G. M. (1998) · Molecular and Cellular Biology · doi:10.1128/mcb.18.10.5868 · Cited by 187 · see citing works
Mashima, Y., Yamada, K., Wakakura, M., Kigasawa, K., Kudoh, J., Shimizu, N., & Oguchi, Y. (1998) · Current Eye Research · doi:10.1080/02713689808951221 · Cited by 130 · see citing works
Qu, J., Li, R., Zhou, X., Tong, Y., Lü, F., Qian, Y., Hu, Y., Mo, J. Q., West, C. E., & Guan, M. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0665 · Cited by 122 · see citing works
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E. K., & Savontaus, M.-L. (1993) · Human Genetics · doi:10.1007/bf01247339 · Cited by 95 · see citing works
Yuan, H., Qian, Y., Xu, Y., Cao, J., Bai, L., Shen, W., Ji, F., Zhang, X., Kang, D., Mo, J. Q., et al. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30952 · Cited by 84 · see citing works
Li, R., Qu, J., Zhou, X., Tong, Y., Hu, Y., Qian, Y., Lü, F., Mo, J. Q., West, C. E., & Guan, M. (2006) · Gene · doi:10.1016/j.gene.2006.02.014 · Cited by 67 · see citing works
Qu, J., Li, R., Zhou, X., Tong, Y., Yang, L., Chen, J., Zhao, F., Lu, C., Qian, Y., Lü, F., et al. (2006) · Mitochondrion · doi:10.1016/j.mito.2006.11.015 · Cited by 54 · see citing works
Qian, Y., Zhou, X., Hu, Y., Tong, Y., Li, R., Lü, F., Yang, H., Mo, J. Q., Qu, J., & Guan, M. (2005) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.05.003 · Cited by 49 · see citing works
Qu, J., Li, R., Tong, Y., Hu, Y., Zhou, X., Qian, Y., Lü, F., & Guan, M. (2005) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.01.062 · Cited by 36 · see citing works
Molecular pathogenetic mechanism of Leber's hereditary optic neuropathy
瞿佳, & Guan, M. (2006) · Chinese Journal of Optometry & Ophthalmology · doi:10.3760/cma.j.issn.1008-1801.2006.06.001 · Cited by 3 · see citing works
Flagged first, then by citations
1 of the 27 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676 · see citing works
“Also, it has been frequently recognised that certain nucleotide changes that are not pathogenic per se may modulate the effects of deleterious mtDNA mutations [84,85].”
BackgroundSchapira, A. H. V. (2012) · The Lancet · doi:10.1016/s0140-6736(11)61305-6 · Cited by 499 · see citing works
Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies
Lasserre, J.-P., Dautant, A., Aiyar, R. S., Kucharczyk, R., Glatigny, A., Tribouillard‐Tanvier, D., Rytka, J., Blondel, M., Skoczeń, N., Reynier, P., et al. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.020438 · Cited by 158 · see citing works
“Also, multiple studies have determined that the effects of deleteriousmtDNAmutationsmight be exacerbated by mtDNA nucleotide changes that are not pathogenic per se and by unknown factors in nuclear genetic background, i.e. so-called modifier genes (Cai et al., 2008; Swalwell et al., 2008).”
ATP Synthase Diseases of Mitochondrial Genetic Origin
Dautant, A., Meier, T., Hahn, A., Tribouillard-Tanvier, D., di Rago, J.-P., & Kucharczyk, R. (2018) · Frontiers in Physiology · doi:10.3389/fphys.2018.00329 · Cited by 127 · see citing works
“Additionally, the effects of deleterious mtDNA mutations might be exacerbated by mtDNA nucleotide changes that are not pathogenic per se and by unknown factors in nuclear genetic background, i.e., the so-called modifier genes (Cai et al., 2008; Swalwell et al., 2008).”
BackgroundLeber’s hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation
Liang, M., Guan, M., Zhao, F., Zhou, X., Yuan, M., Tong, Y., Yang, L., Wei, Q.-P., Sun, Y., Lü, F., et al. (2009) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2009.03.097 · Cited by 77 · see citing works
Meunier, B., Fisher, N., Ransac, S., Mazat, J.-P., & Brasseur, G. (2013) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2012.11.015 · Cited by 75 · see citing works
Jiang, P., Liang, M., Zhang, J., Gao, Y., He, Z., Yu, H., Zhao, F., Ji, Y., Liu, X., Zhang, M., et al. (2015) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-16158 · Cited by 59 · see citing works
Caporali, L., Iommarini, L., Morgia, C. L., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Dotto, V. D., et al. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007210 · Cited by 55 · see citing works
Mitochondrial DNA Sequence Variation Associated with Dementia and Cognitive Function in the Elderly
Tranah, G. J., The Health, A. A. B. C. S., Nalls, M. A., Katzman, S. M., Yokoyama, J. S., Lam, E. T., Zhao, Y., Mooney, S. D., Thomas, F., Newman, A. B., et al. (2012) · Journal of Alzheimer s Disease · doi:10.3233/jad-2012-120466 · Cited by 50 · see citing works
Analysis of mitochondrial DNA sequence variants in patients with polycystic ovary syndrome
Zhuo, G., Ding, Y., Feng, G., Yu, L., & Jiang, Y. (2012) · Archives of Gynecology and Obstetrics · doi:10.1007/s00404-012-2358-7 · Cited by 44 · see citing works
Ji, Y., Zhang, J., Yu, J., Wang, Y., Lu, Y., Liang, M., Li, Q., Jin, X., Wei, Y., Meng, F., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy450 · Cited by 43 · see citing works
Leber’s hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation
Zhao, F., Guan, M., Zhou, X., Yuan, M., Liang, M., Liu, Q., Liu, Y., Zhang, Y., Yang, L., Tong, Y., et al. (2009) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2009.08.168 · Cited by 42 · see citing works
“In contrast to our previous data that there is a high penetrance of visual loss in some Chinese pedigrees carrying the G11778A mutation [13,15,16,31], the penetrances of visual impairment in these three Chinese families carrying the T14502C mutation were extremely low.”
ResultMitochondrial Disease in Childhood: mtDNA Encoded
Saneto, R. P., & Sedensky, M. M. (2012) · Neurotherapeutics · doi:10.1007/s13311-012-0167-0 · Cited by 39 · see citing works
“In addition, there are certain nucleotide changes that are not disease-causing, but may modulate the phenotype of primary pathological mutations [63, 64].”
BackgroundZhou, X., Zhang, H., Zhao, F., Ji, Y., Tong, Y., Zhang, J., Zhang, Y., Yang, L., Qian, Y., Lü, F., et al. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2010.04.013 · Cited by 38 · see citing works
Zhang, M., Zhou, X., Li, C., Zhao, F., Zhang, J., Yuan, M., Sun, Y., Wang, J., Tong, Y., Liang, M., et al. (2010) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2010.07.014 · Cited by 38 · see citing works
Liu, X., Zhou, X., Zhou, J., Zhao, F., Zhang, J., Li, C., Ji, Y., Zhang, Y., Wei, Q.-P., Sun, Y., et al. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2010.09.003 · Cited by 35 · see citing works
Advances in PCOS Pathogenesis and Progression—Mitochondrial Mutations and Dysfunction
Ilie, I. R. P. (2018) · Advances in clinical chemistry · doi:10.1016/bs.acc.2018.05.003 · Cited by 35 · see citing works
Lloyd, R. E. I., & McGeehan, J. E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0069003 · Cited by 33 · see citing works
Zhang, J., Zhou, X., Zhou, J., Li, C., Zhao, F., Wang, Y., Meng, Y., Wang, J., Yuan, M., Cai, W., et al. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.07.135 · Cited by 29 · see citing works
“6% [18–21,38].”
BackgroundIdentification of novel mitochondrial mutations in Leber's hereditary optic neuropathy.
Kumar, M., Tanwar, M., Saxena, R., Sharma, P., & Dada, R. (2010) · PubMed Central · Cited by 27 · see citing works
Collins, D. W., Gudiseva, H. V., Chavali, V. R. M., Trachtman, B. T., Ramakrishnan, M. S., Merritt, W. T., III, Pistilli, M., Rossi, R. A., Blachon, S., Sankar, P. S., et al. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-23277 · Cited by 25 · see citing works
“The prey fragment for the human APP gene corresponded to amino acids 672 to 713, GenBank accession number gi: 228008403, corresponding to Ab (1-42).”
BackgroundGenetics of Mitochondrial Disease
Saneto, R. P. (2017) · Advances in genetics · doi:10.1016/bs.adgen.2017.06.002 · Cited by 23 · see citing works
Haplogroup Heterogeneity of LHON Patients Carrying the m.14484T>C Mutation in India
Khan, N. A., Govindaraj, P., Soumittra, N., Srilekha, S., Selvakumar, A., Vanniarajan, A., Meena, A. K., Uppin, M. S., Challa, S., Taly, A. B., et al. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-11925 · Cited by 22 · see citing works
Queen, R. A., Steyn, J. S., Lord, P., & Elson, J. L. (2017) · PLoS ONE · doi:10.1371/journal.pone.0187862 · Cited by 21 · see citing works
Xie, S., Zhang, J., Sun, J., Zhang, M., Zhao, F., Wei, Q.-P., Tong, Y., Liu, X., Zhou, X., Jiang, P., et al. (2016) · Mitochondrial DNA Part A · doi:10.3109/19401736.2015.1136304 · Cited by 20 · see citing works
“…m.11696G4A(MT-ND4), m.14502T4 C(MT-ND6), m.4435A4G(MT-TM) and m.15951A4G(MT-TT) as well as m.6480G4A/m.12811T4C/m.15935A4G mutations contribute to the high penetrance and expressivity of visual loss in Chinese families (Cai et al., 2008; Qu et al., 2006, 2007; Zhang et al., 2010a,b).”
BackgroundMethodMitochondrial diseases: expanding the diagnosis in the era of genetic testing
Saneto, R. P. (2020) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2020.40 · Cited by 20 · see citing works
“There are other DNA sequences that can act as modifiers by altering penetrance and expressivity of primary disease-causing pathological variants, but in and by themselves are silent[36].”
BackgroundKumar, M., Kaur, P., Kumar, M., Saxena, R., Sharma, P., & Dada, R. (2012) · Europe PMC (PubMed Central) · Cited by 19 · see citing works
Yeast models of mutations in the mitochondrial ATP6 gene found in human cancer cells
Niedźwiecka, K., Kabala, A. M., Lasserre, J.-P., Tribouillard‐Tanvier, D., Golik, P., Dautant, A., di Rago, J., & Kucharczyk, R. (2016) · Mitochondrion · doi:10.1016/j.mito.2016.04.003 · Cited by 18 · see citing works
Bi, R., Tang, J., Zhang, W., Li, X., Chen, S., Yu, D., Chen, X., & Yao, Y. (2016) · Schizophrenia Research · doi:10.1016/j.schres.2016.01.011 · Cited by 17 · see citing works
“8825 TNC, had been reported to be associated with certain diseases (Cai et al., 2008; Chien et al., 2012; Lin et al., 2008; Ye, 2006) according to the web-based search.”
InfluentialMoosa, A., Ghani, M., & O’Neill, H. C. (2022) · Journal of Clinical Pathology · doi:10.1136/jcp-2021-208028 · Cited by 16 · see citing works
Cui, G., Ding, H., Xu, Y., Li, B., & Wang, D. W. (2012) · Gene · doi:10.1016/j.gene.2012.09.110 · Cited by 16 · see citing works
“Up to date, more than 50 LHON-associated mtDNA mutations have been identified in various ethnic populations (Brandon et al., 2005; Cai et al., 2008).”
BackgroundMitochondriome and Cholangiocellular Carcinoma
Bahitham, W., Liao, X., Peng, F. Y., Bamforth, F. J., Chan, A., Mason, A. L., Stone, B., Stothard, P., & Sergi, C. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104694 · Cited by 16 · see citing works
“In addition, we detected an alteration in T12811C that might fulfill a potential modifier role in increasing the penetrance and expressivity of the primary Leber’s hereditary optic neuropathy (LHON), a mitochondrial inherited degeneration of retinal ganglion cells and their axons that leads to an acute or subacute los…”
BackgroundTranah, G. J., Lam, E. T., Katzman, S. M., Nalls, M. A., Zhao, Y., Evans, D. S., Yokoyama, J. S., Pawlikowska, L., Kwok, P., Mooney, S. D., et al. (2012) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2012.05.012 · Cited by 13 · see citing works
Potential Roles of mtDNA Mutations in PCOS-IR: A Review
Dong, X., Liu, C., Zhuo, G., & Ding, Y. (2023) · Diabetes Metabolic Syndrome and Obesity · doi:10.2147/dmso.s393960 · Cited by 12 · see citing works
Nadeem, M. S., Ahmad, H., Mohammed, K., Muhammad, K., Ullah, I., Baothman, O. A. S., Ali, N., Anwar, F., Zamzami, M. A., & Shakoori, A. R. (2018) · Journal of Cellular Biochemistry · doi:10.1002/jcb.26857 · Cited by 10 · see citing works
“In addition to that, we could not find the mutation 8344A>G which was reportedly found in most of the epileptic patients.(19,20) indicating an apparently different pattern of mt-tRNA gene mutation in myoclonus epilepsy in the local population of Hazara region of Pakistan.”
BackgroundSoini, H. K., Moilanen, J. S., Vilmi‐Kerälä, T., Finnilä, S., & Majamaa, K. (2013) · BMC Medical Genetics · doi:10.1186/1471-2350-14-73 · Cited by 10 · see citing works
“These variants have been postulated to affect the phenotype of Leber’s hereditary optic neuropathy [47-49].”
BackgroundDisease-associated mitochondrial mutations and the evolution of primate mitogenomes
Tavares, W. C., & Seuánez, H. N. (2017) · PLoS ONE · doi:10.1371/journal.pone.0177403 · Cited by 8 · see citing works
Ding, Q., Kucharczyk, R., Zhao, W., Dautant, A., Xu, S., Niedźwiecka, K., Su, X., Giraud, M., Gombeau, K., Zhang, M., et al. (2020) · Life · doi:10.3390/life10090215 · Cited by 7 · see citing works
“Additionally, the effects of deleterious mtDNA mutations may be aggravated by nucleotide changes in nuclear and mitochondrial DNA that are not pathogenic per se (the so-called modifier genes) [6,7].”
BackgroundTribouillard‐Tanvier, D., Dautant, A., Godard, F., Charles, C., Panja, C., di Rago, J., & Kucharczyk, R. (2022) · Methods in molecular biology · doi:10.1007/978-1-0716-2309-1_14 · Cited by 6 · see citing works
Chen, Z., Chen, L., Tan, J., Mao, Y., Hao, M., Li, Y., Wáng, Y., Li, J., Wang, J., Li, J., et al. (2024) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2024.06.005 · Cited by 5 · see citing works
Weigh and wait: the prospect of mitochondrial gene replacement
Xu, L., & Shi, R. (2016) · Human Fertility · doi:10.1080/14647273.2016.1230234 · Cited by 5 · see citing works
“Since then, over 200 mutations have been identified and linked to serious human disorders, including myopathies (Taivassalo et al., 2001), neurodegenerative diseases (Cai et al., 2008; Carelli et al., 2009) and diabetes (Ritov et al., 2010).”
BackgroundZhang, F., Dang, Q.-C. L., & Vik, S. B. (2022) · Mitochondrion · doi:10.1016/j.mito.2022.03.001 · Cited by 3 · see citing works
“Appendix A. Supplementary data Supplementary data to this article can be found online at https://doi.org/10.1016/j.mito.2022.03.001. anuscript A uthor M anuscript A uthor M anuscript A uthor M anuscript Neuropathy (LHON) (Yu-Wai-Man and Chinnery, 2021) and Leigh syndrome (Bakare et al., 2021), since the 1990s, due to…”
BackgroundInfluentialSoini, H. K., Väisänen, A., Kärppä, M., Hinttala, R., Kytövuori, L., Moilanen, J. S., Uusimaa, J., & Majamaa, K. (2017) · BMC Medical Genetics · doi:10.1186/s12881-017-0377-8 · Cited by 3 · see citing works
Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report
Xu, Q., Sun, P., Feng, C., Chen, Q., Sun, X., Chen, Y., & Tian, G. (2022) · Frontiers in Medicine · doi:10.3389/fmed.2022.912103 · Cited by 2 · see citing works
“The T12811C (Y159H) mutation is located in highly conserved residues in ND5 that encodes the subunit of respiratory chain complex I (16).”
BackgroundPrimer effect in the detection of mitochondrial DNA point heteroplasmy by automated sequencing
Calatayud, M., Ramos, A., dos Santos, C. M. P., & Aluja, M. P. (2013) · Mitochondrial DNA · doi:10.3109/19401736.2012.760072 · Cited by 2 · see citing works
“Great part of mutations appeared in the mitochondrial DNA (mtDNA) in heteroplasmy (presence of more than one type of DNA in every cell, tissue or individual), becoming an important issue in the molecular diagnosis of mitochondrial diseases (Ballana et al. 2008; Cai et al. 2008).”
BackgroundLiu, Y., ZHUANG, S.-L., Tong, Y., Jia, Q. U., Zhou, X., Fu-Xin, Z. H. A. O., Zhang, J., Zhang, Y., ZHANG, Y., & Guan, M. (2010) · Hereditas (Beijing) · doi:10.3724/sp.j.1005.2010.00141 · Cited by 2 · see citing works
“[DOI] [16] Cai WS, Fu Q, Zhou XT, Qu J, Tong Y, Guan MX.”
BackgroundMolekularne podłoże chorób spowodowanych mutacjami w genach kodujących podjednostki syntazy ATP
Kucharczyk, R., Baranowska, E., & Rytka, J. (2018) · Postępy Biochemii · doi:10.18388/pb.2018_144 · Cited by 1 · see citing works
Mackey, D. A. (2012) · doi:10.1093/med/9780195326147.003.0039
Shah, V. S., Coussa, R. G., & Traboulsi, E. I. (2025) · Oxford University Press eBooks · doi:10.1093/med/9780197659403.003.0043
Jiang, X., Shi, L., Zhao, M., Chen, C., Tang, T., Ji, S., Lv, B., Jia, L., Duan, S., Ma, J.-Y., et al. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1643229
Syndrome de Barth et recherche de voies thérapeutiques
Almyre, C. (2024) · theses.fr (ABES) · doi:10.70675/6de95820z84d7z467ez9477zb31adc2ae471
Ji, Y., Meng, F., Gao, Y., Nie, Z., He, Y., Zhang, J., Li, Y., Zhang, M., Wang, J., Zhang, Y., et al. (2026) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2026.08.007
- Authors
- Cai, W., Fu, Q., Zhou, X., Qu, J., Tong, Y., & Guan, M.-X.
- Affiliations
- Wenzhou Medical University (CN)
- Henan Medical University (CN)
- Fujian Medical University (CN)
- Cincinnati Children's Hospital Medical Center (US)
- Corresponding author
- Guan, Min-Xin
- Venue
- Journal of Genetics and Genomics
- Publisher
- Elsevier BV
- Published
- 2008-11
- Volume
- 35
- Issue
- 11
- Pages
- 649-655
- ISSN
- 1873-5533 (ISSN-L)
- 1673-8527
- OpenAlex
- W2052339493
- Cited by
- 54
- References
- 27
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 2 · 2023: 1 · 2022: 4 · 2020: 3 · 2018: 7 · 2017: 4 · 2016: 4 · 2015: 2 · 2014: 1 · 2013: 5 · 2012: 9
- FWCI
- 1.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of genetics and genomics/Journal of Genetics and Genomics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Ophthalmology › Glaucoma and retinal disorders
- Keywords
- Leber's hereditary optic neuropathy, mitochondrial DNA variants, homoplasmy, effect modification, penetrance, expressivity, vision loss, mitochondrial dysfunction, Han Chinese family
- MeSH terms
- Adolescent, Adult, Base Sequence, Child, China, DNA Mutational Analysis, DNA, Mitochondrial, Ethnicity, Female, Humans, Male, Mitochondria, Mutation, NADH Dehydrogenase, Pedigree, Phenotype, Optic Atrophy, Hereditary, Leber
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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