Unpublished Variant 20081022001

This is a record of an observed human mtDNA variant submitted to MITOMAP

Citing this variant:
Yang, Juhua 2008. MITOMAP mtDNA Sequence Data, https://mitowiki.research.chop.edu/foswiki/bin/view/MITOMAP/Submissions/20081022001

VariantSubmissionForm edit

LastName Yang
FirstName Juhua
Email Julian_yang@126.com
OrganizationName Biomedical Engineering Center, Fujian Medical University
Country China
Address 88 Jiaotong Road, Fuzhou, Fujian
PILastName Yang
PIFirstName Juhua
PIEmail Julian_yang@126.com
PolymorphismPosition 10680
Polymorphism A
AlleleType polymorphism
NAChange G-A
AAChange A-T
Locus MT-ND4L
Detection automated
SampleID LHON-01-001
Tissue blood
Phenotype LHON
Ethnicity Han Chinese
Origin China
Haplogroup East Asian haplogroup B4b'd
Comment We describe a four-generation Chinese LHON family (20 patients) with complete penetrance and very high percentage of recovery vison(88pct). Sequence analysis of the complete mtDNA in two patients (the proband Ⅳ:12 and his mother Ⅲ:9) of this LHON family revealed that a total of 28 base changes, 25 of which were known polymorphisms. Among of these variants, seven missense variants in the protein encoding genes present in patients’ mtDNA, including T14484C mutation, one novel G10680A variant in ND4L, and five known polymorphic variants, A8860G in ATP6, A13942G in ND5, A15038G, C14766T and A15326G in Cytb.%The novel G10680A mutation changes the highly evolutionarily conserved amino acid Ala at 71 in ND4L, which the Ala residue is found in 59 of 61 mammalian species (http://mtsnp.tmig.or.jp/mtsnp/search_mtSAP_evaluation_e.html). This mutation was absent in other members of this family and 100 unrelated Han Chinese control subjects, and it was not mtDNA polymorphism by researching Human mtDB which comprises 1865 complete sequences and 839 coding region sequences. We suggest that the G10680A mutation may act in synergy with the primary T14484C mutation, increasing the risk of disease expression, which may account for the complete penetrance of our LHON family.% Previous submittal id 20080526002.
Topic revision: r1 - 26 Nov 2012, UnknownUser

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