[A Non-invasive Method for Detecting Mitochondrial TRNA15927G>A Mutation]

Overview

Journal Nan Fang Yi Ke Da Xue Xue Bao

Specialty General Medicine

Date 2021 Jan 29

PMID 33509769

Citations 1

Authors

Zhining Tang

Xiaowen Tang

Ling Xue

Minxin Guan

Affiliations

Soon will be listed here.

Abstract

Objective: To explore the feasibility of detecting maternal hereditary mitochondrial tRNA15927G>A (m.15927G>A) mutation using buccal swabs.

Methods: We performed sequence analysis of mitochondrial DNA in blood samples from 2070 cases of maternal hereditary mitochondrial disease in the First Affiliated Hospital of Wenzhou Medical University, and identified 3 patients with m.15927G>A mutation.Buccal swabs and blood samples were obtained from the 3 patients (mutation group) and 3 normal volunteers (control group).After extracting whole genomic DNA from all the samples, the DNA concentration and purity were analyzed.The PCR products were subjected to dot blot hybridization, Southern blot hybridization, and DNA sequencing analysis to verify the feasibility of detecting m.15927G>A mutation using buccal swabs.

Results: There was no significant difference in DNA concentration extracted from buccal swabs and blood samples in either the mutation group or the control group ( > 0.05), but the purity of manually extracted oral mucosa DNA was significantly lower than that of whole blood and oral mucosa DNA extracted using commercial kits ( < 0.05).Dot blot hybridization and Southern blot hybridization both yielded positive results in the control group but negative results in the mutation group.DNA sequencing identified m.15927G>A mutation in all the samples from the mutation group.

Conclusions: Buccal swabs collection accurate is an accurate and sensitive method for the detection of m.15927G>A mutation.

Citing Articles

Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth.

Savino F, Sardo A, Gambarino S, Dini M, Clemente A, Pau A Genes (Basel). 2024; 15(1).

PMID: 38275620 PMC: 10815013. DOI: 10.3390/genes15010139.

References

Jia Z, Zhang Y, Li Q, Ye Z, Liu Y, Fu C . A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis. Nucleic Acids Res. 2018; 47(4):2056-2074. PMC: 6393294. DOI: 10.1093/nar/gky1241. View

Minucci A, Canu G, Concolino P, Guarino D, Boccia S, Ficarra S . DNA from buccal swab is suitable for rapid genotyping of angiotensin-converting enzyme insertion/deletion (I/D) polymorphism. Clin Chim Acta. 2014; 431:125-30. DOI: 10.1016/j.cca.2013.12.041. View

Gong S, Peng Y, Jiang P, Wang M, Fan M, Wang X . A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. Nucleic Acids Res. 2014; 42(12):8039-48. PMC: 4081083. DOI: 10.1093/nar/gku466. View

Abou-Sleiman P, Muqit M, Wood N . Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nat Rev Neurosci. 2006; 7(3):207-19. DOI: 10.1038/nrn1868. View

Wang S, Li R, Fettermann A, Li Z, Qian Y, Liu Y . Maternally inherited essential hypertension is associated with the novel 4263A>G mutation in the mitochondrial tRNAIle gene in a large Han Chinese family. Circ Res. 2011; 108(7):862-70. DOI: 10.1161/CIRCRESAHA.110.231811. View

Yarham J, Al-Dosary M, Blakely E, Alston C, Taylor R, Elson J . A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat. 2011; 32(11):1319-25. DOI: 10.1002/humu.21575. View

Keijzer H, Endenburg S, Smits M, Koopmann M . Automated genomic DNA extraction from saliva using the QIAxtractor. Clin Chem Lab Med. 2010; 48(5):641-3. DOI: 10.1515/CCLM.2010.139. View

Harty L, Garcia-Closas M, Rothman N, Reid Y, Tucker M, Hartge P . Collection of buccal cell DNA using treated cards. Cancer Epidemiol Biomarkers Prev. 2000; 9(5):501-6. View

Jia Z, Wang X, Qin Y, Xue L, Jiang P, Meng Y . Coronary heart disease is associated with a mutation in mitochondrial tRNA. Hum Mol Genet. 2013; 22(20):4064-73. PMC: 3781636. DOI: 10.1093/hmg/ddt256. View

10.

Lu J, Qian Y, Li Z, Yang A, Zhu Y, Li R . Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. Mitochondrion. 2009; 10(1):69-81. PMC: 2787746. DOI: 10.1016/j.mito.2009.09.007. View

11.

Li R, Liu Y, Li Z, Yang L, Wang S, Guan M . Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family. Hypertension. 2009; 54(2):329-37. PMC: 2907155. DOI: 10.1161/HYPERTENSIONAHA.109.129270. View

12.

Andrews R, Kubacka I, Chinnery P, Lightowlers R, Turnbull D, Howell N . Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet. 1999; 23(2):147. DOI: 10.1038/13779. View

13.

Ismail H, Morgan C, Griffiths P, Williams J, Jenkins G . A Newly Developed Nested PCR Assay for the Detection of Helicobacter pylori in the Oral Cavity. J Clin Gastroenterol. 2015; 50(1):17-22. DOI: 10.1097/MCG.0000000000000310. View

14.

Wang F, Zhu L, Liu B, Zhu X, Wang N, Deng T . Noninvasive and Accurate Detection of Hereditary Hearing Loss Mutations with Buccal Swab Based on Droplet Digital PCR. Anal Chem. 2018; 90(15):8919-8926. DOI: 10.1021/acs.analchem.8b01096. View

15.

Amory S, Keyser C, Crubezy E, Ludes B . STR typing of ancient DNA extracted from hair shafts of Siberian mummies. Forensic Sci Int. 2006; 166(2-3):218-29. DOI: 10.1016/j.forsciint.2006.05.042. View

16.

Nakagawa S, Kuwabara N, Takamatsu Y, Shimoeda S, Ohta S, Yamato S . Detection of cytochrome P450 2C19 gene polymorphism from noninvasive samples by cycling probe technology. Ann Clin Biochem. 2013; 51(Pt 2):298-300. DOI: 10.1177/0004563213499316. View

17.

Li X, Fischel-Ghodsian N, Schwartz F, Yan Q, Friedman R, Guan M . Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. Nucleic Acids Res. 2004; 32(3):867-77. PMC: 373379. DOI: 10.1093/nar/gkh226. View

18.

Lu Z, Chen H, Meng Y, Wang Y, Xue L, Zhi S . The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree. Eur J Hum Genet. 2011; 19(11):1181-6. PMC: 3198143. DOI: 10.1038/ejhg.2011.111. View

19.

Florentz C, Sohm B, Tryoen-Toth P, Putz J, Sissler M . Human mitochondrial tRNAs in health and disease. Cell Mol Life Sci. 2003; 60(7):1356-75. PMC: 11138538. DOI: 10.1007/s00018-003-2343-1. View

20.

Liu Y, Bai J, Zhu Y, Liang X, Siemieniak D, Venta P . Rapid screening of genetic polymorphisms using buccal cell DNA with detection by matrix-assisted laser desorption/ionization mass spectrometry. Rapid Commun Mass Spectrom. 1995; 9(9):735-43. DOI: 10.1002/rcm.1290090905. View