Objective To screen mitochondrial DNA mutations in 3 Chinese pedigrees with Leberprime;s hereditary optic neuropathy (LHON) carrying the ND1 G3635A mutation. Methods 88 members（53 maternal relatives and 35 paternal relatives）in 3 pedigrees were enrolled. The ophthalmologic examinations were performed for all members, including visual acuity (standard logarithmic visual acuity charts), fundus photography (Canon fundus camera),visual field (Humphrey Visual Field Analyzer), color vision (Yu zhiping color vision plate), and visual evoked potentials (Roland Consult RETI port gamma, flash VEP). 16 members had LHON, 72 members did not have LHON. 135 healthy people from Wenzhou were included as the control group. Genomic DNA was extracted from peripheral blood leukocytes of all subjects. G3635A mutation was screened by PCR mplification of mitochondrial DNA for all subjects. Mitochondrial haplotypes and other mutations in the entire mitochondrial genome were also determined by PCR using 24 pairs of primers for the probands. Results Analysis of mitochondrial DNA (mtDNA) in 3 pedigrees revealed the presence of ND1 G3635A mutation in 3 probands and all maternal relatives, but not in paternal relatives and healthy controls. Probandprime;s haplogroup belong to East Asia group N9a3, D4, and R11a. In addition to the G3635A mutation, probands also had other variants including 12 variants in D-loop region, 6 variants in RNA gene, and 36 variants in protein-encoding gene. Conclusions G3635A mutation was identified in probands and maternal relatives of 3 pedigrees of LHON. It showed that G3635A mutation was the pathogenic molecular basis for those patients.
Objective To observe the molecular genetic characteristics of seven Chinese families with Leberprime;s hereditary optic neuropathy (LHON). Methods Ophthalmologic examinations were performed on seven probands, maternal members from seven Chinese families and 134 healthy controls. There were two LHON patients in seven Chinese families except probands. The entire mitochondrial genome was amplified using 24 pairs of oligonucleotide primers with overlapping fragments.The mutational site was analyzed through comparison of the Results and Cambridge reference sequence. The penetrance of mutation site was calculated and the haplotype was analyzed. Results Molecular analysis of mitochondrial DNA (mtDNA) in these pedigrees revealed the absence of three common LHON associated with ND4 G11778A, ND1 G3460A and ND6 T14484C mutations. The ND1 T3394C mutation in probands and other matrilineal relatives was present in four out of 134 Chinese healthy controls. Strikingly, these families exhibited very low penetrance of visual impairment. The penetrance was 12.50%, 22.22%, 16.76%, 6.25%, 9.09%, 11.11% and 28.57%. The Results of phylogenetic tree analysis of submitochondrial haplotype showed that these mtDNA polymorphism sites belong to the Asian haplogroups M9, M9, M, D4, M, M9 and M9. Conclusions T3394C mutation exists in seven Chinese LHON pedigrees, and the penetrance was ranged from 6.25% to 28.57%. The patients have different clinical manifestations.
In order to improve the epilepsy management and treatment of Hebei province, improve the life quality of epilepsy patients. Hebei Association Against Epilepsy start a multicenter-clinical trial about the diagnosis, medicine treatment and effect of epilepsy through mobile phone APP. The data collected by health management APP shows that the diagnosis rate of epilepsy syndrome has enhanced from 21% to 39% within six months; also 80.4% of patients have got seizure-free within the first month of treatment. Therefore, the diagnosis and treatment of epilepsy in Hebei province has been improved. However, only 46% of adult patients have been hospitalized within the first 2 years of seizure onset. Therefore, patients need further education about epilepsy in the future. In this trial, the daily management of patients by doctors has come true through the use of mobile phone APP. Through the mobile phone APP, doctors achieved the real-time supervision of disease progress and adjustment of the treatment. This trial provide evidence for future treatment and daily management of epilepsy patients.