J Korean Med Sci.  2024 Jan;39(3):e41. 10.3346/jkms.2024.39.e41.

Letter to the Editor: Depending on the Disease Stage and Modifying Factors, mtDNA-Associated Hearing Loss Can Occur With Many mtDNA Mutations

• Finsterer J

• KMID: 2551183
• DOI: http://doi.org/10.3346/jkms.2024.39.e41

Figure

• 

  Fig. 1 Visualization of genomic locus ‘chrM:1555’ using the Integrative Genomics Viewer (IGV). The input files were BAM (Binary Alignment Map) files of YUHL847-21 and 681-21. Both individuals had m.1555A>G variant at a homoplasmy level.

Reference

1. Joo SY, Jang SH, Kim JA, Kim SJ, Kim B, Kim HY, et al. Prevalence and clinical characteristics of mitochondrial DNA mutations in Korean patients with sensorineural hearing loss. J Korean Med Sci. 2023; 38(48):e355. PMID: 38084023.

2. Fancello V, Fancello G, Palma S, Monzani D, Genovese E, Bianchini C, et al. The role of primary mitochondrial disorders in hearing impairment: an overview. Medicina (Kaunas). 2023; 59(3):608. PMID: 36984609.

3. Laricchia KM, Lake NJ, Watts NA, Shand M, Haessly A, Gauthier L, et al. Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Res. 2022; 32(3):569–582. PMID: 35074858.

4. Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, et al. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024; 625(7993):92–100. PMID: 38057664.

5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5):405–424. PMID: 25741868.

6. Sallevelt SC, de Die-Smulders CE, Hendrickx AT, Hellebrekers DM, de Coo IF, Alston CL, et al. De novo mtDNA point mutations are common and have a low recurrence risk. J Med Genet. 2017; 54(2):73–83. PMID: 27450679.

7. Lou X, Zhou Y, Liu Z, Xie Y, Zhang L, Zhao S, et al. De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome. Gene. 2023; 860:147229. PMID: 36717040.

8. O’Donnell L, Blakely EL, Baty K, Alexander M, Bogdanova-Mihaylova P, Craig J, et al. Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1. J Neuromuscul Dis. 2020; 7(3):355–360. PMID: 32310184.

9. Uittenbogaard M, Brantner CA, Fang Z, Wong LC, Gropman A, Chiaramello A. Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome. Mol Genet Metab. 2018; 124(1):71–81. PMID: 29602698.

10. Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, et al. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. Mol Genet Metab. 2014; 113(3):207–212. PMID: 25037980.