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Jinu Han(Jinu Han),Kwangsic Joo(Kwangsic Joo),Ungsoo Samuel Kim(Ungsoo Samuel Kim),Se Joon Woo(Se Joon Woo),Eun Kyoung Lee(Eun Kyoung Lee),Joo Yong Lee(Joo Yong Lee),Tae Kwann Park(Tae Kwann Park),San 대한안과학회 2023 Korean Journal of Ophthalmology Vol.37 No.2
Mutations in the RPE65 gene, associated with Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitispigmentosa, gained growing attention since gene therapy for patients with RPE65-associated retinal dystrophy is available inclinical practice. RPE65 gene accounts for a very small proportion of patients with inherited retinal degeneration, especiallyAsian patients. Because RPE65-associated retinal dystrophy shares common clinical characteristics, such as early-onset severenyctalopia, nystagmus, low vision, and progressive visual field constriction, with retinitis pigmentosa by other geneticmutations, appropriate genetic testing is essential to make a correct diagnosis. Also, fundus abnormalities can be minimal inearly childhood, and the phenotype is highly variable depending on the type of mutations in RPE65-associated retinal dystrophy,which makes a diagnostic difficulty. The aim of this paper is to review the epidemiology of RPE65-associated retinaldystrophy, mutation spectrum, genetic diagnosis, clinical characteristics, and voretigene neparvovec, a gene therapy productfor the treatment of RPE65-related retinal dystrophy.
Lee, Jinu,Lee, Dong Ryul,Lee, Suman Medknow PublicationsMedia Pvt Ltd 2014 ASIAN JOURNAL OF ANDROLOGY Vol.16 No.5
<P>Monocarboxylic acid transporter 2 (MCT2) transports pyruvate and lactate outside and inside of sperms, mainly as energy sources and plays roles in the regulation of spermatogenesis. We investigated the association among genetic variations in the <I>MCT2</I> gene, male infertility and <I>MCT2</I> expression levels in sperm. The functional and genetic significance of the intron 2 (+28201A > G, rs10506398) and 3’ untranslated region (UTR) single nucleotide polymorphism (SNP) (+2626G > A, rs10506399) of MCT2 variants were investigated. Two MCT2 polymorphisms were associated with male infertility (<I>n</I> = 471, <I>P</I> < 0.05). In particular, the MCT2-3’ UTR SNP (+2626 G > A) had a strong association with the oligoasthenoteratozoospermia (OAT) group. The +2626GG type had an almost 2.4-fold higher sperm count than that of the +2626AA type (+2626GG; 66 × 10<SUP>6</SUP><I>vs</I> +2626AA; 27 × 10<SUP>6</SUP>, <I>P</I> < 0.0001). The MCT2-3’ UTR SNP may be important for expression, as it is located at the MCT2 3’ UTR. The average MCT2 protein amount in sperm of the +2626GG type was about two times higher than that of the +2626AA type. The results suggest that genetic variation in MCT2 has functional and clinical relevance with male infertility.</P>
Zinc Inhibits Amyloid Ղ Production from Alzheimer s Amyloid Precursor Protein in SH-SY5Y Cells
Jinu Lee,Chul Hoon Kim,Dong Goo Kim,Young Soo Ahn 대한생리학회-대한약리학회 2009 The Korean Journal of Physiology & Pharmacology Vol.13 No.3
Zinc released from excited glutamatergic neurons accelerates amyloidՂ(AՂ)aggregation, underscoring the therapeutic potential of zinc chelation for the treatment of Alzheimer s disease (AD). Zinc can also alter AՂconcentration by affecting its degradation. In order to elucidate the possible role of zinc influx in secretase-processed AՂproduction, SH-SY5Y cells stably expressing amyloid precursor protein (APP) were treated with pyrrolidine dithiocarbamate (PDTC), a zinc ionophore, and the resultant changes in APP processing were examined. PDTC decreased AՂ40 and AՂ42 concentrations in culture media bathing APP-expressing SH-SY5Y cells. Measuring the levels of a series of C-terminal APP fragments generated by enzymatic cutting at different APP-cleavage sites showed that both Ղ- and Ձ-cleavage of APP were inhibited by zinc influx. PDTC also interfered with the maturation of APP. PDTC, however, paradoxically increased the intracellular levels of AՂ40. These results indicate that inhibition of secretase-mediated APP cleavage accounts-at least in part- for zinc inhibition of AՂ secretion.
Ophthalmological manifestations in patients with Leigh syndrome
Han, Jinu,Lee, Young-Mock,Kim, Sang Myung,Han, So Young,Lee, Jong Bok,Han, Sueng-Han British Medical Association 2015 British journal of ophthalmology Vol.99 No.4
<P><B>Background</B></P><P>To describe the ophthalmological manifestations in patients with childhood onset Leigh syndrome (LS) and investigate the correlation between genotypes and phenotypes in patients with LS.</P><P><B>Methods</B></P><P>Childhood onset LS was clinically and enzymatically confirmed in a total of 63 patients. Among them, 44 patients who underwent ophthalmologic consultation were included in this study. Patients with LS underwent genotyping for the whole genome of mitochondrial DNA and SURF1 mutations. The clinical demographic and ophthalmologic phenotypes were compared between the good prognosis group and the poor prognosis group.</P><P><B>Results</B></P><P>Strabismus (40.9%) was the most frequently observed ophthalmologic manifestation, followed by pigmentary retinopathy (22.5%), optic atrophy (22.5%), ptosis (15.9%), and nystagmus (13.6%). Thirteen patients were exotropes and five patients were esotropes. The mean exodeviation was 29.6±12.5 prism dioptres (PD) and the mean esodeviation was 24.0±8.9 PD. All patients with esotropia reported disease onset at <1 year old. Among 26 patients older than 4 years, eight (30.8%) patients had better than 0.4 in the best eye was noted. Eyelid ptosis was a main presenting sign in four patients (9.1%). Among these patients, two patients had m.13513G>A mutation in the <I>MT-ND5</I> gene. Age at onset was 2.47±2.06 years in the good prognosis group and 0.92±0.98 years in the poor prognosis group (p=0.002). Serum lactate peak concentration was 3.23±1.36 mmol/L in the good prognosis group and 4.54±2.31 mmol/L in the poor prognosis group (p=0.051).</P><P><B>Conclusions</B></P><P>LS is a group of mitochondrial disorders with variable ophthalmologic manifestations, the most frequent being strabismus in this study. Ptosis could be an initial sign in patients with LS and these patients can be easily misdiagnosed as having juvenile myasthenia gravis.</P>