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Deafness, mitochondrial, modifier of

MedGen UID:
865646
•Concept ID:
C4017209
•
Finding
Synonym: DEAFNESS, MITOCHONDRIAL, MODIFIER OF
 
OMIM®: 610230

Professional guidelines

PubMed

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
Gardner P, Oitmaa E, Messner A, Hoefsloot L, Metspalu A, Schrijver I
Pediatrics 2006 Sep;118(3):985-94. doi: 10.1542/peds.2005-2519. PMID: 16950989

Recent clinical studies

Etiology

Maternally inherited non-syndromic hearing loss is linked with a novel mitochondrial ND6 gene mutation.
Zhang T, Su R, Xiang W, Wang W
Ir J Med Sci 2024 Apr;193(2):937-943. Epub 2023 Aug 10 doi: 10.1007/s11845-023-03484-6. PMID: 37561388
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.
Esterhuizen K, Lindeque JZ, Mason S, van der Westhuizen FH, Rodenburg RJ, de Laat P, Smeitink JAM, Janssen MCH, Louw R
Metabolomics 2021 Jan 12;17(1):10. doi: 10.1007/s11306-020-01769-w. PMID: 33438095
Contribution of the tRNA(Ile) 4317A→G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A→G mutation.
Meng F, He Z, Tang X, Zheng J, Jin X, Zhu Y, Ren X, Zhou M, Wang M, Gong S, Mo JQ, Shu Q, Guan MX
J Biol Chem 2018 Mar 2;293(9):3321-3334. Epub 2018 Jan 18 doi: 10.1074/jbc.RA117.000530. PMID: 29348176Free PMC Article
Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case-control study.
Massin P, Dubois-Laforgue D, Meas T, Laloi-Michelin M, Gin H, Bauduceau B, Bellanné-Chantelot C, Bertin E, Blickle JF, Bouhanick B, Cahen-Varsaux J, Casanova S, Charpentier G, Chedin P, Dupuy O, Grimaldi A, Guerci B, Kaloustian E, Lecleire-Collet A, Lorenzini F, Murat A, Narbonne H, Olivier F, Paquis-Flucklinger V, Virally M, Vincenot M, Vialettes B, Timsit J, Guillausseau PJ; GEDIAM (Mitochondrial Diabetes French Study Group)
Diabetologia 2008 Sep;51(9):1664-70. Epub 2008 Jun 26 doi: 10.1007/s00125-008-1073-1. PMID: 18581092
Mitochondrial DNA and disease.
Suomalainen A
Ann Med 1997 Jun;29(3):235-46. doi: 10.3109/07853899708999341. PMID: 9240629

Diagnosis

Research Advances on Deafness Genes Associated with Mitochondrial tRNA-37 Modifications.
Bian P, Chai J, Xu B
J Int Adv Otol 2023 Oct;19(5):414-419. doi: 10.5152/iao.2023.231107. PMID: 37789629Free PMC Article
Discrimination of A1555G and C1494T point mutations in the mitochondrial 12S rRNA gene by on/off switch.
Guo ZF, Guo WS, Xiao L, Gao GQ, Lan F, Lu XG, Li K, Liao DF
Appl Biochem Biotechnol 2012 Jan;166(1):234-42. Epub 2011 Nov 10 doi: 10.1007/s12010-011-9419-4. PMID: 22068689
Mitochondrial deafness.
Fischel-Ghodsian N
Ear Hear 2003 Aug;24(4):303-13. doi: 10.1097/01.AUD.0000079802.82344.B5. PMID: 12923421
Technical knockout, a Drosophila model of mitochondrial deafness.
Toivonen JM, O'Dell KM, Petit N, Irvine SC, Knight GK, Lehtonen M, Longmuir M, Luoto K, Touraille S, Wang Z, Alziari S, Shah ZH, Jacobs HT
Genetics 2001 Sep;159(1):241-54. doi: 10.1093/genetics/159.1.241. PMID: 11560901Free PMC Article
Mitochondrial DNA and disease.
Suomalainen A
Ann Med 1997 Jun;29(3):235-46. doi: 10.3109/07853899708999341. PMID: 9240629

Therapy

Aldh inhibitor restores auditory function in a mouse model of human deafness.
Zhu GJ, Gong S, Ma DB, Tao T, He WQ, Zhang L, Wang F, Qian XY, Zhou H, Fan C, Wang P, Chen X, Zhao W, Sun J, Chen H, Wang Y, Gao X, Zuo J, Zhu MS, Gao X, Wan G
PLoS Genet 2020 Sep;16(9):e1009040. Epub 2020 Sep 24 doi: 10.1371/journal.pgen.1009040. PMID: 32970669Free PMC Article
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.
Lu J, Qian Y, Li Z, Yang A, Zhu Y, Li R, Yang L, Tang X, Chen B, Ding Y, Li Y, You J, Zheng J, Tao Z, Zhao F, Wang J, Sun D, Zhao J, Meng Y, Guan MX
Mitochondrion 2010 Jan;10(1):69-81. Epub 2009 Oct 8 doi: 10.1016/j.mito.2009.09.007. PMID: 19818876Free PMC Article
Mitochondrial haplotype and phenotype of 13 Chinese families may suggest multi-original evolution of mitochondrial C1494T mutation.
Zhu Y, Li Q, Chen Z, Kun Y, Liu L, Liu X, Yuan H, Zhai S, Han D, Dai P
Mitochondrion 2009 Nov;9(6):418-28. Epub 2009 Aug 12 doi: 10.1016/j.mito.2009.07.006. PMID: 19682603
Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
de Moraes VC, Alexandrino F, Andrade PB, Câmara MF, Sartorato EL
Biochem Biophys Res Commun 2009 Apr 3;381(2):210-3. Epub 2009 Feb 12 doi: 10.1016/j.bbrc.2009.02.014. PMID: 19338775
Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.
Wang X, Lu J, Zhu Y, Yang A, Yang L, Li R, Chen B, Qian Y, Tang X, Wang J, Zhang X, Guan MX
Pharmacogenet Genomics 2008 Dec;18(12):1059-70. doi: 10.1097/FPC.0b013e3283131661. PMID: 18820594Free PMC Article

Prognosis

Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy.
Murofushi Y, Hayakawa I, Abe Y, Ohto T, Murayama K, Suzuki H, Takenouchi T, Kosaki K, Kubota M
Neuropediatrics 2022 Feb;53(1):65-68. Epub 2021 Aug 26 doi: 10.1055/s-0041-1732446. PMID: 34448181
Mitochondrial damages and the regulation of insulin secretion.
Maechler P, de Andrade PB
Biochem Soc Trans 2006 Nov;34(Pt 5):824-7. doi: 10.1042/BST0340824. PMID: 17052207
Technical knockout, a Drosophila model of mitochondrial deafness.
Toivonen JM, O'Dell KM, Petit N, Irvine SC, Knight GK, Lehtonen M, Longmuir M, Luoto K, Touraille S, Wang Z, Alziari S, Shah ZH, Jacobs HT
Genetics 2001 Sep;159(1):241-54. doi: 10.1093/genetics/159.1.241. PMID: 11560901Free PMC Article
Cell cycle of myocytes of cardiac and skeletal muscle in mitochondrial myopathy.
Takeda A, Chiba S, Takaaki I, Tanamura A, Yamaguchi Y, Takeda N
Jpn Circ J 1998 Sep;62(9):695-9. doi: 10.1253/jcj.62.695. PMID: 9766710
Insulin resistance associated with maternally inherited diabetes and deafness.
Gebhart SS, Shoffner JM, Koontz D, Kaufman A, Wallace D
Metabolism 1996 Apr;45(4):526-31. doi: 10.1016/s0026-0495(96)90231-0. PMID: 8609843

Clinical prediction guides

A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNAGlu and Mitochondrial Dysfunction.
Wang M, Liu H, Zheng J, Chen B, Zhou M, Fan W, Wang H, Liang X, Zhou X, Eriani G, Jiang P, Guan MX
J Biol Chem 2016 Sep 30;291(40):21029-21041. Epub 2016 Aug 12 doi: 10.1074/jbc.M116.739482. PMID: 27519417Free PMC Article
The defective expression of gtpbp3 related to tRNA modification alters the mitochondrial function and development of zebrafish.
Chen D, Li F, Yang Q, Tian M, Zhang Z, Zhang Q, Chen Y, Guan MX
Int J Biochem Cell Biol 2016 Aug;77(Pt A):1-9. Epub 2016 May 13 doi: 10.1016/j.biocel.2016.05.012. PMID: 27184967
Discrimination of A1555G and C1494T point mutations in the mitochondrial 12S rRNA gene by on/off switch.
Guo ZF, Guo WS, Xiao L, Gao GQ, Lan F, Lu XG, Li K, Liao DF
Appl Biochem Biotechnol 2012 Jan;166(1):234-42. Epub 2011 Nov 10 doi: 10.1007/s12010-011-9419-4. PMID: 22068689
Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.
Lu J, Qian Y, Li Z, Yang A, Zhu Y, Li R, Yang L, Tang X, Chen B, Ding Y, Li Y, You J, Zheng J, Tao Z, Zhao F, Wang J, Sun D, Zhao J, Meng Y, Guan MX
Mitochondrion 2010 Jan;10(1):69-81. Epub 2009 Oct 8 doi: 10.1016/j.mito.2009.09.007. PMID: 19818876Free PMC Article
Technical knockout, a Drosophila model of mitochondrial deafness.
Toivonen JM, O'Dell KM, Petit N, Irvine SC, Knight GK, Lehtonen M, Longmuir M, Luoto K, Touraille S, Wang Z, Alziari S, Shah ZH, Jacobs HT
Genetics 2001 Sep;159(1):241-54. doi: 10.1093/genetics/159.1.241. PMID: 11560901Free PMC Article

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