| Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy. | Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.
Campbell T, Lou X, Slone J, Brown J, Bromwell M, Liu J, Bai R, Haude K, Balog A, Cui H, Zou W, Yang L, Al-Beshri A, Huang T. | 06/18/2022 |
| Study in transmitochondrial cybrid model of MELAS (100% m.3243A>G mutant mitochondrial DNA) provides cutting-edge information on the involvement of microRNAs (miRNAs) in the cell response to the mitochondrial dysfunction associated with mutation m.3243A>G in mitochondrial tRNA Leu(UUR) gene. Some miRNAs are direct regulators of fetal cardiac genes such which are up-regulated in MELAS cybrids. | The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.
Meseguer S, Panadero J, Navarro-González C, Villarroya M, Boutoual R, Comi GP, Armengod ME. | 12/22/2018 |
| A missense mutation in TRNL1 associated with familial hematuria in a family with focal segmental glomerulosclerosis. | Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.
Li Y, Wang Y, He Q, Dang X, Cao Y, Wu X, Mo S, He X, Yi Z., Free PMC Article | 07/21/2018 |
| Data suggest that subjects with point mutation 3243A>G in mtRNA-Leu(UUR) develop MIDD (maternally inherited diabetes and deafness); as compared to patients with T1DM (type 1 diabetes mellitus) or early-onset T2DM (type 2 diabetes mellitus) matched for sex, age, duration of diabetes, such MIDD patients have highest rate of osteoporosis. | The clinical characteristics of patients with mitochondrial tRNA Leu(UUR)m.3243A > G mutation: Compared with type 1 diabetes and early onset type 2 diabetes.
Zhu J, Yang P, Liu X, Yan L, Rampersad S, Li F, Li H, Sheng C, Cheng X, Zhang M, Qu S. | 05/5/2018 |
| we present comprehensive clinical and laboratory data for 50 individuals with the m.3243A> G MTTL1 mutation, as well as information focusing specifically on the sequence of symptoms. | The phenotypic spectrum of fifty Czech m.3243A>G carriers.
Dvorakova V, Kolarova H, Magner M, Tesarova M, Hansikova H, Zeman J, Honzik T. | 12/16/2017 |
| Data suggest that a mutation in tRNA(Leu)(UUR) (3253 T->C) in mitochondrial DNA is associated with maternally inherited hypertension in a Han Chinese family; this mutation alters the conformation, stability, and function of tRNA(Leu); tRNA(Leu) with mutation 3253 T->C exhibits 35% reduction in aminoacylation efficiency as compared to control. | A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNA(Leu(UUR)).
Zhou M, Wang M, Xue L, Lin Z, He Q, Shi W, Chen Y, Jin X, Li H, Jiang P, Guan MX., Free PMC Article | 09/16/2017 |
| MT-ND4 and MT-TL1 genetic variation might be associated with male infertility in Chinese patients. | Mitochondrial variations in the MT-ND4 and MT-TL1 genes are associated with male infertility.
Ni F, Zhou Y, Zhang WX, Wang XM, Song XM, Jiang H. | 07/1/2017 |
| The m.3243A>G MTTL1 mutation is the most common cause of mitochondrial disease and it can cause intestinal pseudo-obstruction. | Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.
Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS., Free PMC Article | 06/10/2017 |
| mutation of transfer RNA(Leu(UUR)) disrupted the highly conserved base pairing (2T-71A) and resulted a failure in mt-tRNA metabolism. Analysis of the mitochondrial copy number showed that the patients with PCOS and insulin resistance had lower copy number than the health controls, suggesting that mitochondrial dysfunction may be involved in the pathogenesis of insulin resistance | The Mitochondrial tRNALeu(UUR) A3302G Mutation may be Associated With Insulin Resistance in Woman With Polycystic Ovary Syndrome.
Ding Y, Zhuo G, Zhang C. | 01/28/2017 |
| A family with MTTL1 A3243G mutation is described. Clinical presentations were varied with symptoms ranging from hearing loss, migraines, dementia, seizures, diabetes, visual manifestations, and stroke like episodes. | MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.
Prasad M, Narayan B, Prasad AN, Rupar CA, Levin S, Kronick J, Ramsay D, Tay KY, Prasad C. | 06/28/2016 |
| The results document alterations in glucose metabolism in individuals with the m.3243A>G mutation that contribute significantly to our understanding of the pathogenesis of mitochondrial diabetes mellitus. | Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.
El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Jahoor F, Scaglia F, Craigen WJ., Free PMC Article | 08/1/2015 |
| A heteroplasmic mutation, m.3291T>C, was found in a patient and her normal mother and sister. This study is the first to describe the pathogenic m.3291T>C mutation in association with the MERRF/MELAS overlap syndrome. | MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.
Liu K, Zhao H, Ji K, Yan C. | 06/6/2015 |
| Described is the clinical, pathological, and molecular features of a child and his asymptomatic mother, carrying the m.3271T>C mutation in the mitochondrial tRNA(Leu(UUR)) gene, in association with hypertrophic cardiomyopathy. | Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.
Brisca G, Fiorillo C, Nesti C, Trucco F, Derchi M, Andaloro A, Assereto S, Morcaldi G, Pedemonte M, Minetti C, Santorelli FM, Bruno C. | 05/16/2015 |
| m.3460G>A/MT-ND1 mutation caused only a reduction in mitochondrial complex I(CI) activity, whereas the m.3571insC/MT-ND1 and the m.3243A>G/MT-TL1 mutations induced a severe structural and functional CI alteration. | Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment.
Iommarini L, Kurelac I, Capristo M, Calvaruso MA, Giorgio V, Bergamini C, Ghelli A, Nanni P, De Giovanni C, Carelli V, Fato R, Lollini PL, Rugolo M, Gasparre G, Porcelli AM. | 11/8/2014 |
| Mitochondrial retinal dystrophy associated with the m.3243A>G mutation has specific characteristics that can be classified into 4 grades. | Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.
de Laat P, Smeitink JAM, Janssen MCH, Keunen JEE, Boon CJF. | 02/1/2014 |
| The results of this study indicated a multisystemic mitochondrial disorder associated with the m.3243A>G mutation in MTTL1. | Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.
Tschampa HJ, Urbach H, Greschus S, Kunz WS, Kornblum C. | 09/28/2013 |
| We have defined the phenotypic spectrum associated with the MTTL1 mtDNA mutation in 129 patients | The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.
Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R. | 09/14/2013 |
| The level of C3256T heteroplasmy of mitochondrial genome in human white blood cells is a biomarker of mitochondrial dysfunction and risk factor for atherosclerosis. | Mutation C3256T of mitochondrial genome in white blood cells: novel genetic marker of atherosclerosis and coronary heart disease.
Sobenin IA, Sazonova MA, Ivanova MM, Zhelankin AV, Myasoedova VA, Postnov AY, Nurbaev SD, Bobryshev YV, Orekhov AN., Free PMC Article | 07/20/2013 |
| The clinical presentation of the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)varies broadly in patients with the A3243G mutation. | Atypical clinical presentations of the A3243G mutation, usually associated with MELAS.
Blum S, Robertson T, Klingberg S, Henderson RD, McCombe P. | 06/29/2013 |
| m.3242G > A de novo mutation found in 3 patients with hypertrophic cardiomyopathy and renal tubular dysfunction. | Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Wortmann SB, Champion MP, van den Heuvel L, Barth H, Trutnau B, Craig K, Lammens M, Schreuder MF, Taylor RW, Smeitink JA, Wevers RA, Rodenburg RJ, Morava E. | 06/22/2013 |
| A study concludes that the m.3243A > G mutation causes a wide variety of signs and symptoms, maternally inherited diabetes and deafness being the most prevalent phenotypic expression. | Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.
de Laat P, Koene S, van den Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA., Free PMC Article | 06/8/2013 |
| Patients with the m.3243A.G mutation have a high incidence of cardiac death and life-threatening adverse events. | High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation.
Malfatti E, Laforêt P, Jardel C, Stojkovic T, Behin A, Eymard B, Lombès A, Benmalek A, Bécane HM, Berber N, Meune C, Duboc D, Wahbi K. | 03/2/2013 |
| a single mutation of the mitochondrial deoxyribonucleic acid (DNA) affects both the glucose metabolism and the inner ear physiology. | Mitochondrial diabetes and deafness: possible dysfunction of strial marginal cells of the inner ear.
Olmos PR, Borzone GR, Olmos JP, Diez A, Santos JL, Serrano V, Cataldo LR, Anabalón JL, Correa CH. | 08/13/2011 |
| This is the first reported case of a double-point mutation in mtDNA, tRNA(Lys) and tRNA(Leu) genes, both of which were heteroplasmic and pathogenic for MERRF/MELAS overlap syndrome. | MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H. | 01/29/2011 |
| Observational study of gene-disease association and genetic testing. (HuGE Navigator) | Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.
Kato T, Nishigaki Y, Noguchi Y, Ueno H, Hosoya H, Ito T, Kimura Y, Kitamura K, Tanaka M. | 04/7/2010 |