Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy

Sudoyo, Herawati; Suryadi, Helena; Lertrit, Patcharee; Pramoonjago, Patcharin; Lyrawati, Diana; Marzuki, Sangkot

doi:10.1007/s100380200091

Cited by 42 publications

(26 citation statements)

References 21 publications

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“…The occurrence rate of sporadic cases is 50%~80%, 50% and 40% in America, Europe and Japan, respectively. It was reported that 90% of LHON cases in Asia were caused by mtDNA11778 mutation and that in China 40% of the cases of optic neuropathy without clear explanation actually belonged to LHON (Sudoyo et al, 2002;Marotta et al, 2004;Jia et al, 2006;Volod′ko et al, 2006;Zhang and Qi, 2008). Because of the heteroplasmy of mtDNA mutation, it is difficult to make a quick and convenient detection of mtDNA mutation.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, with the development of molecular diagnosis, sporadic cases of LHON were found among patients with optic neuritis of unclear causes (Yen et al, 2003;Man et al, 2003;Houshmand et al, 2004). Among these patients, some were found to have pathogenic mtDNA mutations, especially mtDNA11778 mutation, which has been shown to be prevalent in Japanese and Chinese LHON patients (Sudoyo et al, 2002;Jia et al, 2006). Various methods have been published to detect the mtDNA mutation, such as conventional polymerase chain reaction (PCR)-sequencing, allele-specific oligonucleotide (ASO) PCR analysis and PCR-restriction fragment length polymorphism (RFLP) (Zhang et al, 2005;Wang et al, 2007).…”

Section: Introductionmentioning

confidence: 99%

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MGB probe assay for rapid detection of mtDNA11778 mutation in the Chinese LHON patients by real-time PCR

Wang

et al. 2008

J. Zhejiang Univ. Sci. B

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Abstract:Objective: Leber's hereditary optic neuropathy (LHON) is a maternally inherited degeneration of the optic nerve caused by point mutations of mitochondrial DNA (mtDNA). Many unsolved questions regarding the penetrance and pathophysiological mechanism of LHON demand efficient and reliable mutation testing. This study aims to develop a minor groove binder (MGB) probe assay for rapid detection of mtDNA11778 mutation and heteroplasmy in Chinese LHON patients by real-time polymerase chain reaction (PCR). Methods: Forty-eight patients suspected of having LHON and their maternal relatives underwent a molecular genetic evaluation, with 20 normal individuals as a control group at the same time. A real-time PCR involving two MGB probes was used to detect the mtDNA11778 mutation and heteroplasmy. A linear standard curve was obtained by pUCmLHONG and pUCmLHONA clones. Results: All 48 LHON patients and their maternal relatives were positive for mtDNA11778 mutation in our assay, 27 heteroplasmic and 21 homoplasmic. Eighteen cases did not show an occurrence of the disease, while 9 developed the disease among the 27 heteroplasmic mutation cases. Eleven did not show an occurrence of the disease, while 10 cases developed the disease among 21 homoplasmic mutation cases. There was a significant difference in the incidence between the heteroplasmic and the homoplasmic mutation types. The time needed for running a real-time PCR assay was only 80 min. Conclusion: This real-time PCR assay is a rapid, reliable method for mtDNA mutation detection as well as heteroplasmy quantification. Detecting this ratio is very important for predicting phenotypic expression of unaffected carriers.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

MGB probe assay for rapid detection of mtDNA11778 mutation in the Chinese LHON patients by real-time PCR

Wang

et al. 2008

J. Zhejiang Univ. Sci. B

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“…The populations hypothesized to have contributed to the Cape Muslim admixture were chosen from published data representing three major groups namely (1) African (Khoisan), (2) Asian (Indian and South-East populations) and (3) European. Sample sizes of African, Asian and European populations were respectively n = 74 (Chen et al , 2000), n = 378 (Kivisild et al , 1999; Sudoyo et al , 2002), and n = 956 (Byrne et al , 2008) for mtDNA, and n = 129 (Underhill et al , 2001, Cruciani et al , 2002), n = 398 (Kayser et al , 2003; Cordaux et al , 2004; Tajima et al , 2004), and n = 66 (Semino et al , 2000) for NRY.…”

Section: Methodsmentioning

confidence: 99%

Reconstruction of major maternal and paternal lineages of the Cape Muslim population

2013

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The earliest Cape Muslims were brought to the Cape (Cape Town - South Africa) from Africa and Asia from 1652 to 1834. They were part of an involuntary migration of slaves, political prisoners and convicts, and they contributed to the ethnic diversity of the present Cape Muslim population of South Africa. The history of the Cape Muslims has been well documented and researched however no in-depth genetic studies have been undertaken. The aim of the present study was to determine the respective African, Asian and European contributions to the mtDNA (maternal) and Y-chromosomal (paternal) gene pool of the Cape Muslim population, by analyzing DNA samples of 100 unrelated Muslim males born in the Cape Metropolitan area. A panel of six mtDNA and eight Y-chromosome SNP markers were screened using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP). Overall admixture estimates for the maternal line indicated Asian (0.4168) and African mtDNA (0.4005) as the main contributors. The admixture estimates for the paternal line, however, showed a predominance of the Asian contribution (0.7852). The findings are in accordance with historical data on the origins of the early Cape Muslims.

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“…mtDNA haplogroups and their characteristic SNPs—for example, m.10398A/G [2], m.5178C/A [3], and m.152T/C [4]—can be advantageous or detrimental and have been implicated in a number of diseases and pathological conditions, including cancer [5], aging [6], diabetes [7], osteoarthritis [8], schizophrenia [9], and Leber's hereditary optic neuropathy [10]. A phylogenetic tree of L3 subhaplogroups that migrated from Africa to East Asia [11, 12] revealed that many of the subclades were associated with metabolic and degenerative diseases [13, 14].…”

Section: Introductionmentioning

confidence: 99%

Generation and Bioenergetic Profiles of Cybrids with East Asian mtDNA Haplogroups

Zhou

Nie

Qiu

et al. 2017

Oxidative Medicine and Cellular Longevity

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Human mitochondrial DNA (mtDNA) variants and haplogroups may contribute to susceptibility to various diseases and pathological conditions, but the underlying mechanisms are not well understood. To address this issue, we established a cytoplasmic hybrid (cybrid) system to investigate the role of mtDNA haplogroups in human disease; specifically, we examined the effects of East Asian mtDNA genetic backgrounds on oxidative phosphorylation (OxPhos). We found that mtDNA single nucleotide polymorphisms such as m.489T>C, m.10398A>G, m.10400C>T, m.C16223T, and m.T16362C affected mitochondrial function at the level of mtDNA, mtRNA, or the OxPhos complex. Macrohaplogroup M exhibited higher respiratory activity than haplogroup N owing to its higher mtDNA content, mtRNA transcript levels, and complex III abundance. Additionally, haplogroup M had higher reactive oxygen species levels and NAD+/NADH ratios than haplogroup N, suggesting difference in mitonuclear interactions. Notably, subhaplogroups G2, B4, and F1 appeared to contribute significantly to the differences between haplogroups M and N. Thus, our cybrid-based system can provide insight into the mechanistic basis for the role of mtDNA haplogroups in human diseases and the effect of mtDNA variants on mitochondrial OxPhos function. In addition, studies of mitonuclear interaction using this system can reveal predisposition to certain diseases conferred by variations in mtDNA.

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Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy

Cited by 42 publications

References 21 publications

MGB probe assay for rapid detection of mtDNA11778 mutation in the Chinese LHON patients by real-time PCR

MGB probe assay for rapid detection of mtDNA11778 mutation in the Chinese LHON patients by real-time PCR

Reconstruction of major maternal and paternal lineages of the Cape Muslim population

Generation and Bioenergetic Profiles of Cybrids with East Asian mtDNA Haplogroups

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