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[The influence of mitochondrial haplogroup on Leber's hereditary optic neuropathy].
Mao YJ, Qu J, Guan MX. Mao YJ, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Feb;25(1):45-9. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008. PMID: 18247303 Review. Chinese.
These findings strongly indicated that the LHON-associated primary mutation(s) are the primary factors underlying the development of vision loss, but they themselves are insufficient to produce a clinic phenotype. ...In particular, the mitochondrial haplotypes may play a s …
These findings strongly indicated that the LHON-associated primary mutation(s) are the primary factors underlying the development of visi …
Mitochondrial Diabetes is Associated with tRNALeu(UUR) A3243G and ND6 T14502C Mutations.
Ding Y, Zhang S, Guo Q, Zheng H. Ding Y, et al. Diabetes Metab Syndr Obes. 2022 Jun 3;15:1687-1701. doi: 10.2147/DMSO.S363978. eCollection 2022. Diabetes Metab Syndr Obes. 2022. PMID: 35685248 Free PMC article.
RESULTS: Members of the two pedigrees manifestated variable clinical phenotypes including diabetes and hearing and vision impairments. The age at onset of T2DM varied from 31 to 66 years, with an average of 41 years. Mutational analysis of mitochondrial genomes indicated t …
RESULTS: Members of the two pedigrees manifestated variable clinical phenotypes including diabetes and hearing and vision impairments …
Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families.
Sun YH, Wei QP, Zhou X, Qian Y, Zhou J, Lu F, Qu J, Guan MX. Sun YH, et al. Biochem Biophys Res Commun. 2006 Aug 18;347(1):221-5. doi: 10.1016/j.bbrc.2006.06.075. Epub 2006 Jun 21. Biochem Biophys Res Commun. 2006. PMID: 16806060
Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. In the affected matrilineal relatives, the loss of central vision is bilateral, the fellow eye becoming affected either simultaneously (45%) or s …
Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. In the affected …
Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background.
Howell N, Herrnstadt C, Shults C, Mackey DA. Howell N, et al. Am J Med Genet A. 2003 Jun 1;119A(2):147-51. doi: 10.1002/ajmg.a.20135. Am J Med Genet A. 2003. PMID: 12749053
In particular, it has been postulated that one or more polymorphisms associated with European haplogroup J mtDNAs substantially increase the penetrance of the primary LHON mutation at nucleotide 14484. We report here a haplogroup H matrilineal pedigree (VIC14) in which the …
In particular, it has been postulated that one or more polymorphisms associated with European haplogroup J mtDNAs substantially increase the …
Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.
Qu J, Wang Y, Tong Y, Zhou X, Zhao F, Yang L, Zhang S, Zhang J, West CE, Guan MX. Qu J, et al. Invest Ophthalmol Vis Sci. 2010 Oct;51(10):4906-12. doi: 10.1167/iovs.09-5027. Epub 2010 Apr 30. Invest Ophthalmol Vis Sci. 2010. PMID: 20435583 Free PMC article.
METHODS: Thirty-five subjects from two Han Chinese families with maternally transmitted LHON underwent a clinical and genetic evaluation and molecular analysis of mitochondrial (mt)DNA. RESULTS: Matrilineal relatives in the two Chinese families exhibited a wide range of se …
METHODS: Thirty-five subjects from two Han Chinese families with maternally transmitted LHON underwent a clinical and genetic evaluation and …
Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation.
Cai W, Fu Q, Zhou X, Qu J, Tong Y, Guan MX. Cai W, et al. J Genet Genomics. 2008 Nov;35(11):649-55. doi: 10.1016/S1673-8527(08)60086-7. J Genet Genomics. 2008. PMID: 19022198
Strikingly, this Chinese family displayed high penetrance and expressivity of visual loss. The average age-of-onset of vision loss was 18 years in this family. Nineteen (11 males/8 females) of 29 matrilineal relatives in this family developed visual loss with a wide …
Strikingly, this Chinese family displayed high penetrance and expressivity of visual loss. The average age-of-onset of vision loss wa …
The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.
Wei QP, Zhou X, Yang L, Sun YH, Zhou J, Li G, Jiang R, Lu F, Qu J, Guan MX. Wei QP, et al. Biochem Biophys Res Commun. 2007 Jun 15;357(4):910-6. doi: 10.1016/j.bbrc.2007.04.025. Epub 2007 Apr 16. Biochem Biophys Res Commun. 2007. PMID: 17452034
We report here the clinical, genetic and molecular characterization of one three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON) and hearing loss. Four of 14 matrilineal relatives exhibited the moderate central vision loss at the averag …
We report here the clinical, genetic and molecular characterization of one three-generation Han Chinese family with Leber's hereditary optic …
Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.
Macmillan C, Kirkham T, Fu K, Allison V, Andermann E, Chitayat D, Fortier D, Gans M, Hare H, Quercia N, Zackon D, Shoubridge EA. Macmillan C, et al. Neurology. 1998 Feb;50(2):417-22. doi: 10.1212/wnl.50.2.417. Neurology. 1998. PMID: 9484365
Median age at onset for males was 19 years (95th percentile, 40.8 years; range, 6 to 48 years). Some improvement of vision was observed in 58% of patients. Recurrence risks to brothers were 28%, sisters 5%, nephews 30%, nieces 3%, male matrilineal first cousins 19%, …
Median age at onset for males was 19 years (95th percentile, 40.8 years; range, 6 to 48 years). Some improvement of vision was observ …
Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.
Zhang J, Zhou X, Zhou J, Li C, Zhao F, Wang Y, Meng Y, Wang J, Yuan M, Cai W, Tong Y, Sun YH, Yang L, Qu J, Guan MX. Zhang J, et al. Biochem Biophys Res Commun. 2010 Sep 3;399(4):647-53. doi: 10.1016/j.bbrc.2010.07.135. Epub 2010 Aug 4. Biochem Biophys Res Commun. 2010. PMID: 20691156
We report here the clinical, genetic, and molecular evaluations of four Han Chinese families with Leber's hereditary optic neuropathy. Thirty-one (20 males/11 females) of 83 matrilineal relatives in these families exhibited the variable severity and age-at-onset in visual …
We report here the clinical, genetic, and molecular evaluations of four Han Chinese families with Leber's hereditary optic neuropathy. Thirt …
Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation.
Qu J, Li R, Tong Y, Hu Y, Zhou X, Qian Y, Lu F, Guan MX. Qu J, et al. Biochem Biophys Res Commun. 2005 Mar 25;328(4):1139-45. doi: 10.1016/j.bbrc.2005.01.062. Biochem Biophys Res Commun. 2005. PMID: 15707996 Clinical Trial.
These matrilineal relatives in this family exhibited late-onset/progressive visual impairment with a wide range of severity, ranging from blindness to normal vision. ...We showed that the G11778A mutation is present at near homoplasmy in matrilineal relatives …
These matrilineal relatives in this family exhibited late-onset/progressive visual impairment with a wide range of severity, ranging …
22 results