Research & Literature

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.

Iwanicka-Pronicka K, Pollak A, Skórka A, et al.

Medical science monitor : international medical journal of experimental and clinical research 2015; (21()):694-700 doi:10.12659/MSM.890965.

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

El-Hattab AW, Adesina AM, Jones J, Scaglia F

Molecular genetics and metabolism 2015; (116(1-2)):4-12.

The Outcome of Cochlear Implantation for Mitochondrial Disease Patients With Syndromic Hearing Loss.

Yamamoto N, Okuyama H, Hiraumi H, et al.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2015; (36(8)):e129-33 doi:10.1097/MAO.0000000000000817.

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.

Ng YS, Grady JP, Lax NZ, et al.

European heart journal 2016; (37(32)):2552-9 doi:10.1093/eurheartj/ehv306.

Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.

Wahbi K, Bougouin W, Béhin A, et al.

European heart journal 2015; (36(42)):2886-93 doi:10.1093/eurheartj/ehv307.

When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?

Lorenzoni PJ, Werneck LC, Kay CS, et al.

Arquivos de neuro-psiquiatria 2015; (73(11)):959-67.

MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis.

Hsu YR, Yogasundaram H, Parajuli N, et al.

Heart failure reviews 2016; (21(1)):103-116 doi:10.1007/s10741-015-9524-5.

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.

Perli E, Fiorillo A, Giordano C, et al.

Human molecular genetics 2016; (25(5)):903-15 doi:10.1093/hmg/ddv619.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Wilson IJ, Carling PJ, Alston CL, et al.

Human molecular genetics 2016; (25(5)):1031-41 doi:10.1093/hmg/ddv626.

Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome.

Vandana VP, Bindu PS, Sonam K, et al.

Clinical neurology and neurosurgery 2016; (148()):17-21.

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.

Seitun S, Massobrio L, Rubegni A, et al.

Case reports in cardiology 2016; (2016()):1490181 doi:10.1155/2016/1490181.

Impaired renal function and dysbiosis of gut microbiota contribute to increased trimethylamine-N-oxide in chronic kidney disease patients.

Xu KY, Xia GH, Lu JQ, et al.

Scientific reports 2017; (7(1)):1445 doi:10.1038/s41598-017-01387-y.

Gut Microbiota Metabolites and Risk of Major Adverse Cardiovascular Disease Events and Death: A Systematic Review and Meta-Analysis of Prospective Studies.

Heianza Y, Ma W, Manson JE, et al.

Journal of the American Heart Association 2017; (6(7)) doi:10.1161/JAHA.116.004947.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.

Parikh S, Goldstein A, Karaa A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(12)) doi:10.1038/gim.2017.107.

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Pickett SJ, Grady JP, Ng YS, et al.

Annals of clinical and translational neurology 2018; (5(3)):333-345 doi:10.1002/acn3.532.

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

Grady JP, Pickett SJ, Ng YS, et al.

EMBO molecular medicine 2018; (10(6)) doi:10.15252/emmm.201708262.

Mutation-specific effects in germline transmission of pathogenic mtDNA variants.

Otten ABC, Sallevelt SCEH, Carling PJ, et al.

Human reproduction (Oxford, England) 2018; (33(7)):1331-1341 doi:10.1093/humrep/dey114.

Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral l-carnitine.

Vallance HD, Koochin A, Branov J, et al.

Molecular genetics and metabolism reports 2018; (15()):130-133 doi:10.1016/j.ymgmr.2018.04.005.

The heart in m.3243A>G carriers.

Finsterer J, Zarrouk-Mahjoub S

Herz 2020; (45(4)):356-361 doi:10.1007/s00059-018-4739-6.

Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).

Niedermayr K, Pölzl G, Scholl-Bürgi S, et al.

Congenital heart disease 2018; (13(5)):671-677 doi:10.1111/chd.12634.

Clinical profile and outcome of cardiac involvement in MELAS syndrome.

Brambilla A, Favilli S, Olivotto I, et al.

International journal of cardiology 2019; (276()):14-19 doi:10.1016/j.ijcard.2018.10.051.

Mitochondrial DNA mutation m.3243A>G is associated with altered mitochondrial function in peripheral blood mononuclear cells, with heteroplasmy levels and with clinical phenotypes.

Geng X, Zhang Y, Yan J, et al.

Diabetic medicine : a journal of the British Diabetic Association 2019; (36(6)):776-783 doi:10.1111/dme.13874.

The decision to discontinue screening for carnitine uptake disorder in New Zealand.

Wilson C, Knoll D, de Hora M, et al.

Journal of inherited metabolic disease 2019; (42(1)):86-92 doi:10.1002/jimd.12030.

Progression of Peripheral Vestibular Dysfunctions in Patients With a Mitochondrial A3243G Mutation.

Inoue A, Iwasaki S, Fujimoto C, et al.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019; (40(3)):359-364 doi:10.1097/MAO.0000000000002091.

Audiological and Vestibular Findings in Subjects with MELAS Syndrome.

Hougaard DD, Hestoy DH, Hojland AT, et al.

The journal of international advanced otology 2019; (15(2)):296-303 doi:10.5152/iao.2019.5913.

Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy.

Quadir A, Pontifex CS, Lee Robertson H, et al.

Neurology. Genetics 2019; (5(4)):e339 doi:10.1212/NXG.0000000000000339.

Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families.

Liu G, Shen X, Sun Y, et al.

Journal of the neurological sciences 2020; (408()):116562 doi:10.1016/j.jns.2019.116562.

Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis.

Scholle LM, Zierz S, Mawrin C, et al.

Genes 2020; (11(2)) doi:10.3390/genes11020212.

Management of mitochondrial diabetes in the era of novel therapies.

Yeung RO, Al Jundi M, Gubbi S, et al.

Journal of diabetes and its complications 2021; (35(1)):107584 doi:10.1016/j.jdiacomp.2020.107584.

Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.

de Laat P, Rodenburg RR, Roeleveld N, et al.

Journal of medical genetics 2021; (58(1)):48-55 doi:10.1136/jmedgenet-2019-106800.

Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G.

Finsterer J, Laccone F

The American journal of case reports 2020; (21()):e927938 doi:10.12659/AJCR.927938.

Cochlear Implantation Outcomes in Patients with Mitochondrial Hearing Loss: A Systematic Review and Narrative Synthesis.

Zia N, Nikookam Y, Muzaffar J, et al.

The journal of international advanced otology 2021; (17(1)):72-80 doi:10.5152/iao.2020.9226.

Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implications.

Coussa RG, Parikh S, Traboulsi EI

Survey of ophthalmology 2021; (66(5)):838-855 doi:10.1016/j.survophthal.2021.02.008.

The non-syndromic clinical spectrums of mtDNA 3243A>G mutation.

Shen X, Du A

Neurosciences (Riyadh, Saudi Arabia) 2021; (26(2)):128-133 doi:10.17712/nsj.2021.2.20200145.

Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS.

Tetsuka S, Ogawa T, Hashimoto R, Kato H

Metabolic brain disease 2021; (36(8)):2181-2193 doi:10.1007/s11011-021-00772-x.

Exploring the Ability of LARS2 Carboxy-Terminal Domain in Rescuing the MELAS Phenotype.

Capriglia F, Rizzo F, Petrosillo G, et al.

Life (Basel, Switzerland) 2021; (11(7)) doi:10.3390/life11070674.

The Mutations and Clinical Variability in Maternally Inherited Diabetes and Deafness: An Analysis of 161 Patients.

Yang M, Xu L, Xu C, et al.

Frontiers in endocrinology 2021; (12()):728043 doi:10.3389/fendo.2021.728043.

Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder.

Bourke JP, Ng YS, Tynan M, et al.

Open heart 2022; (9(1)) doi:10.1136/openhrt-2021-001819.

l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: A Systematic Review.

Stefanetti RJ, Ng YS, Errington L, et al.

Neurology 2022; (98(23)):e2318-e2328 doi:10.1212/WNL.0000000000200299.

Cochlear Implantation in Patients with Mitochondrial Gene Mutation: Decline in Speech Perception in Retrospective Long-Term Follow-Up Study.

Kanemoto K, Kashio A, Ogata E, et al.

Life (Basel, Switzerland) 2022; (12(4)) doi:10.3390/life12040482.

Long-Term Progression and Rapid Decline in Hearing Loss in Patients with a Point Mutation at Nucleotide 3243 of the Mitochondrial DNA.

Sakata A, Kashio A, Koyama H, et al.

Life (Basel, Switzerland) 2022; (12(4)) doi:10.3390/life12040543.

Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease.

Hendrix CLF, van den Heuvel FMA, Rodwell L, et al.

Molecular genetics and metabolism 2022; (136(3)):219-225 doi:10.1016/j.ymgme.2022.05.004.

Acute myocardial infarction in a patient with MELAS syndrome: a possible link?

Cosma J, Russo A, Schino S, et al.

Minerva cardiology and angiology 2023; (71(4)):374-380 doi:10.23736/S2724-5683.22.06021-5.

Varied Responses to a High m.3243A>G Mutation Load and Respiratory Chain Dysfunction in Patient-Derived Cardiomyocytes.

Ryytty S, Modi SR, Naumenko N, et al.

Cells 2022; (11(16)) doi:10.3390/cells11162593.

Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single-cell level in individuals with mitochondrial disease.

Imai-Okazaki A, Nitta KR, Yatsuka Y, et al.

Journal of inherited metabolic disease 2022; (45(6)):1143-1150 doi:10.1002/jimd.12547.

Impediments to Heart Transplantation in Adults With MELASMT-TL1:m.3243A>G Cardiomyopathy.

Di Toro A, Urtis M, Narula N, et al.

Journal of the American College of Cardiology 2022; (80(15)):1431-1443 doi:10.1016/j.jacc.2022.04.067.

Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report.

Lee SH, Lee CJ, Won D, Kang SM

European heart journal. Case reports 2023; (7(1)):ytad028 doi:10.1093/ehjcr/ytad028.

Stroke-like episodes in adult mitochondrial disease.

Ng YS, Gorman GS

Handbook of clinical neurology 2023; (194()):65-78 doi:10.1016/B978-0-12-821751-1.00005-1.

Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report.

Seiler F, Ruile P, Moser M, Helbing T

European heart journal. Case reports 2023; (7(2)):ytad073 doi:10.1093/ehjcr/ytad073.

Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A>G.

Bai W, Zhang Q, Fan Y, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(8)):777-781 doi:10.1515/jpem-2023-0016.

Droplet digital polymerase chain reaction to measure heteroplasmic m.3243A>G mitochondrial mutations.

Matsumoto S, Uchiumi T, Noda N, et al.

Laboratory medicine 2024; (55(2)):227-233 doi:10.1093/labmed/lmad063.

Late-onset MELAS syndrome in a 46-year-old man with initial symptom of chest tightness: a case report.

Wang A, Zhao J, Zhao Y, Yan Y

European heart journal. Case reports 2023; (7(9)):ytad441 doi:10.1093/ehjcr/ytad441.

Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.

Cannon SJ, Hall T, Hawkes G, et al.

Human molecular genetics 2024; (33(5)):465-474 doi:10.1093/hmg/ddad194.

The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.

Saunders C, Longman C, Gorman G, et al.

Journal of neuromuscular diseases 2024; (11(1)):179-189 doi:10.3233/JND-230166.

Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea.

Rho EH, Baek SI, Lee H, et al.

Diabetes & metabolism journal 2024; (48(3)):482-486 doi:10.4093/dmj.2023.0078.

Incidence and prevalence of mtDNA-related adult mitochondrial disease in Southwest Finland, 2009-2022: an observational, population-based study.

Martikainen MH, Majamaa K

BMJ neurology open 2024; (6(1)):e000546 doi:10.1136/bmjno-2023-000546.

Chronological change of left ventricular global longitudinal strain in patients with maternally inherited diabetes and deafness: A case series.

Seo JS

Medicine 2024; (103(10)):e37447 doi:10.1097/MD.0000000000037447.

Myoclonic Epilepsy With Ragged Red Fiber Cardiomyopathy: A Case Report and Brief Review of Literature.

Giaj Levra A, Amata F

Cureus 2024; (16(8)):e66745 doi:10.7759/cureus.66745.

Neurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA.

Majamaa K, Kärppä M, Moilanen JS

BMJ neurology open 2024; (6(2)):e000825 doi:10.1136/bmjno-2024-000825.

Auditory and vestibular function in mitochondrial patients harbouring the m.3243A>G variant.

Stefanetti RJ, Newman J, Blain AP, et al.

Brain communications 2024; (6(6)):fcae361 doi:10.1093/braincomms/fcae361.

Beyond the cochlea: exploring the multifaceted nature of hearing loss in primary mitochondrial diseases.

Koohi N, Holmes S, Male A, et al.

Brain communications 2024; (6(6)):fcae374 doi:10.1093/braincomms/fcae374.

Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)- a cross-sectional study.

Stoevesandt D, Schlitt A, Röntgen P, Kraya T

Orphanet journal of rare diseases 2025; (20(1)):62 doi:10.1186/s13023-025-03534-5.

Mitochondrial Mutation Leads to Cardiomyocyte Hypertrophy by Disruption of Mitochondria-Associated ER Membrane.

Yu M, Song M, Zhang M, et al.

Cell proliferation 2025; (58(7)):e70002 doi:10.1111/cpr.70002.

Progressive encephalopathy in m.3243A > G/MT-TL1 mutation carriers: a quantitative EEG analysis.

Scarabello A, Mason F, Ferri L, et al.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2025; (177()):2110822 doi:10.1016/j.clinph.2025.2110822.

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Patients with m.3243A > G have High Prevalence of Wolff-Parkinson-White Syndrome.

Liu JY, Koenig MK, Riggs-Harpur K, Numan MT

Pediatric cardiology 2026; (47(5)):1985-1991 doi:10.1007/s00246-025-03985-4.

Retinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis.

Liu XH, Shen X, Zhong YS

International journal of ophthalmology 2025; (18(9)):1770-1776 doi:10.18240/ijo.2025.09.19.

Outcomes misaligned in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): implications for trial design.

Stefanetti RJ, Charman SJ, Newman J, et al.

Brain communications 2025; (7(5)):fcaf342 doi:10.1093/braincomms/fcaf342.

Clinical characteristics and hearing impairment in carriers of the m.3243 A > G variant.

Uehara N, Fujita T, Uehara K, et al.

Journal of human genetics 2026; (71(3)):145-149 doi:10.1038/s10038-025-01412-3.

Approach to the Patient: Mitochondrial Diabetes: Contemporary Cases and a Precision Medicine Approach.

Oppenheimer KR, Himelhoch NT, McCullough ME, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(4)):1175-1186 doi:10.1210/clinem/dgaf698.

Screening for Maternally Inherited Diabetes and Deafness in Large Cohorts of Hearing Impaired and Diabetic Patients.

Varga L, Borecka S, Skopkova M, et al.

Ear and hearing 2026; (47(3)):863-876 doi:10.1097/AUD.0000000000001780.

MELAS Syndrome Presenting with Hypertrophic Cardiomyopathy and Advanced Heart Failure: A Multisystem Diagnostic Challenge.

Dodulík J, Lazárová M, Kapsová E, Václavík J

Journal of clinical medicine 2026; (15(3)) doi:10.3390/jcm15031109.

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Mancuso M, Bellusci M, Carelli V, et al.

European journal of neurology 2026; (33(4)):e70588 doi:10.1111/ene.70588.

Mitochondrial mutation status, symptom prevalence, and neuroimaging characteristics in MELAS: a systematic review and meta analysis.

Li Y, Han S, Huang D, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Non-invasive urinary heteroplasmy screening outperforms blood testing for certain mitochondrial DNA variants in mitochondrial disease patients.

Okazaki A, Yatsuka Y, Fushimi T, et al.

Molecular genetics and metabolism 2026; (148(4)):110198 doi:10.1016/j.ymgme.2026.110198.

Headache in mitochondrial diseases: From migraine to stroke-like episodes.

Azzimonti M, Padelli S, Ronchi D, et al.

Headache 2026; doi:10.1111/head.70180.