• Journal of Genetic Medicine
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• v.11 no.2
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• pp.69-73
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• 2014

Purpose: Spinocerebellar ataxia (SCA) is a genetically heterogeneous disease for which more than 30 subtypes have been identified. However, 5 subtypes, SCA1, SCA2, SCA3, SCA6, and SCA7, account for more than 60% of cases. In this study, we report the distribution of these 5 subtypes in Korean patients. Materials and Methods: Six hundred and thirty-eight unrelated patients with a presumptive diagnosis of SCA were included in this study. Trinucleotide (CAG) repeat number (TNR) repeat number was determined using fluorescently labeled primers and fragment analysis. Results: A total of 128 unrelated patients (20.1% of all individuals tested) tested positive for SCA subtypes, including SCA1 (5 patients, 3.9% of those testing positive), SCA2 (38 patients, 29.7%), SCA3 (30 patients, 23.4%), SCA6 (39 patients, 30.5%), and SCA7 (16 patients, 12.5%). The mean copy number of pathogenic TNR alleles was $45{\pm}8.5$ for SCA1, $42{\pm}3.1$ for SCA2, $72{\pm}5.4$ for SCA3, $23{\pm}1.5$ for SCA6, and $50{\pm}11.4$ for SCA7. TNR copy number was inversely correlated with onset age in SCA2, SCA6, and SCA7. Conclusion: SCA2, SCA3, and SCA6 are common SCA subtypes in Korean patients and could be screened as a first-line test. Expanded pathogenic allele size was associated with early onset age.

• Journal of Plant Biotechnology
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• v.39 no.4
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• pp.295-299
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• 2012

We performed in vitro assay and field trials to assess levels of changes in intrinsic properties and resistance against soft rot of the potato cv. Dejima upon the introduction of a soybean calmodulin 4 gene (SCaM4). Field trials with four lines overexpressing SCaM4 gene were conducted over two seasons, and harvested tubers were evaluated in bioassay for resistance to Pectobacterium carotovorum ssp. carotovorum. The SCaM4 transgenic potato lines inoculated with $10^8$ CFU/ml of P. carotovorum ssp. carotovorum showed enhanced resistance compared to control. Among the SCaM4 transgenic lines, the transgenic line SCaM4-4 exhibited the highest tolerance to soft rot in vitro assays, so did in field trials. In the field trial, the soft rot resistance of SCaM4-4 line was more than 5 times higher compared to that of control cultivar, Dejima. The major agronomic characteristics of the SCaM4 transgenic lines were not different from those of the nontransgenic 'Dejima'. The result demonstrated that the transformation of a calmodulin 4 gene was a successful strategy in development of potato cultivar enhanced to soft rot.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.22-37
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• 2007

The autosomal dominant spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases, clinically and genetically heterogeneous, characterized by degeneration of spinocerebellar pathways with variable involvement of other neural systems. At present, 27 distinct genetic forms of SCAs are known: SCA1-8, SCA10-21, SCA23, SCA25-28, DRPLA (dentatorubral-pallidoluysian atrophy), and 16q-liked ADCA (autosomal dominant cerebellar ataxia). Epidemiological data about the prevalence of SCAs are restricted to a few studies of isolated geographical regions, and most do not reflect the real occurrence of the disease. In general a prevalence of about 0.3-2 cases per 100,000 people is assumed. As SCA are highly heterogeneous, the prevalence of specific subtypes varies between different ethnic and continental populations. Most recent data suggest that SCA3 is the commonest subtype worldwide; SCA1, SCA2, SCA6, SCA7, and SCA8 have a prevalence of over 2%, and the remaining SCAs are thought to be rare (prevalence <1%). In this review, we highlight and discuss the SCA7. The hallmark of SCA7 is the association of hereditary ataxia and visual loss caused by pigmentary macular degeneration. Visual failure is progressive, bilateral and symmetrical, and leads irreversibly to blindness. This association represents a distinct disease entity classified as autosomal dominant cerebellar ataxia (ADCA) type II by Harding. The disease affectsprimarily the cerebellum and the retina by the moderate to severe neuronal loss and gliosis, but also many other central nervous system structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat in the ATXN7 gene encoding a polyglutamine (polyQ) tract in the corresponding protein, ataxin-7. Normal ATXN7 alleles contain 4-35 CAG repeats, whereas pathological alleles contain from 36->450 CAG repeats. Immunoblott analysis demonstrated that ataxin-7 is widely expressed but that expression levels vary among tissues. Instability of expanded repeats is more pronounced in SCA7 than in other SCA subtypes and can cause substantial lowering of age at onset in successive generations termed ‘anticipation’ so that children may become diseased even before their parents develop symptoms. The strong anticipation in SCA7 and the rarity of contractions should have led to its extinction within a few generations. There is no specific drug therapy for this neurodegenerative disorder. Currently, therapy remains purely symptomatic. Cellular models and SCA7 transgenic mice have been generated which constitute valuable resources for studying the disease mechanism. Understanding the pathogenetic mechanisms of neurodegeneration in SCAs should lead to the identification of potential therapeutic targets and ultimately facilitate drug discovery. Here we summarize the clinical, pathological, and genetic aspects of SCA7, and review the current understanding of the pathogenesis of this disorder. Further, we also review the potential therapeutic strategies that are currently being explored in polyglutamine diseases.

• Journal of Genetic Medicine
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• v.12 no.1
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• pp.38-43
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• 2015

Purpose: Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders with diverse modes of inheritance. There are several subtypes of SCAs. SCA 8, SCA 12, and SCA 17 are the less common forms of SCAs with limited information available on their epidemiological profiles in Korea. The purpose of this study was to investigate the prevalence of SCA8, SCA12, and SCA17 in Korea. Materials and Methods: Ninety-six unrelated Korean patients were enrolled and showed normal trinucleotide repeats through polymerase-chain reaction (PCR) for the genes ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7, which correspond to SCA1, SCA2, SCA3, SCA6, and SCA7, respectively. PCR products from patients were further analyzed by capillary electrophoresis using fluorescence labeled primers for the genes ATXN8OS, PPP2R2B, and TBP, which correspond to SCA8, SCA12, and SCA17. Results: Three patients had 104, 97, and 75 abnormal expanded repeats in the ATXN8OS gene, the causative gene for SCA8. None of the patients exhibited abnormal repeats in SCA12 and SCA17. Normal trinucleotide repeat ranges of the cohort in this study were estimated to be 17-34 copies (average, $24{\pm}4copies$) for SCA8, 7-18 copies (average, $13{\pm}3copies$) for SCA12, and 26-43 copies (average, $35{\pm}2copies$) for SCA17. Conclusion: This study demonstrated that SCA8, SCA12, and SCA17 are rare in Korean patients with SCA, and further genetic studies are warranted to enhance the mutation detection rate in the Korean SCA population.

• The Proceeding of the Korean Institute of Electromagnetic Engineering and Science
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• v.18 no.4
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• pp.14-28
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• 2007

본 고에서는 SCA 기반 SDR 단말기 구현을 위해, 통신 애플리케이션 소프트웨어를 지원하는 하부 구조 관점에서 SCA Core Framework의 구조 및 기능을 기술하고, ETRI에서 SCA 2.2규격을 준수하여 개발한 SCARLET 미들웨어 및 SDR 단말 기능 검증용 공용 하드웨어 플랫폼을 소개하고, SCA기반의 WiMAX/HSDPA 통신 응용 컴포넌트 구현을 통한 실험 내용을 소개한다.

• The Journal of the Institute of Internet, Broadcasting and Communication
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• v.18 no.2
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• pp.111-116
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• 2018

This paper compare the adaptive equalization performance of RMMA (Region-based MMA) and SCA (Square Contour Algorithm) in order to minimize the intersymbol interference that is occurred in communication channel when transmit the multilevel QAM signal. The RMMA used for improving the performance by translate to 4-level constant modulus and stability in current MMA algorithm, and the SCA used for the improving the performacne by combines the current CMA and RCA algorithm. These algorithms are aimed to improving the equalization peformance by applying the differenct principle each other in multilevel QAM signal, its different performance were compared by computer simulation in the same channel environment. For this, the output signal constellation of equalizer, residual isi, maximum distortion were applied in performance index. As a result, RMMA have more fairly good in every performance index such as signal point clustering capabilities and convergence speed compared to SCA. It is confired that the equalization noise due to misadjumstment was reduced in RMMA than SCA.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.35 no.6
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• pp.532-538
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• 1990

This experiment was carried out to establish the efficiency of crop breeding on comparison of combination methods of single, 3-way, and double crosses and combination order of 4 winter wheat which were different in origin, source, and plant types, On comparison of 4 crossing modes, there appeared the earliest heading and the highest grain yield in double cross, and decreased in 3-way. single crosses. and parents in order, There showed the significant mean squares of GCA and SCA in 4${\times}$4 diallel analysis for grain yield and yield components. Grumil and Bezostaya 1 exhibited highest GCA effect of grain yield which appeared the actual highest grain yield. There appeared the highest SCA-effect in F$_1$ (Eunpamil/Bezostaya 1) showing 4.22. Of the 3 double crosses there exhibited the highest grain yield in F$_1$ (Grumil/Eunpamil/ /Lanota/Bezostaya 1). Two single crosses for this double cross ---F$_1$ (Grumil/Eunpamil) and F$_1$ (Lancota/Bezostaya 1) --- do not revealed directly for this yield, but combined each other by chromosome switch as combination of F$_1$ (Grumil/Lancota), F$_1$(Grumil/Bezostaya 1), F$_1$(Eunpamil/Lancota) and F$_1$(Eunpamil/Bezostaya 1) which appeared the higher grain yields and SCA-effects. Of the six 3-way crosses. F$_1$ (Lancota/Bezostaya 1/ /Eunpamil) expressed the highest grain yield. Its combinations were F$_1$ (Lancota/Eunpamil) and F$_1$ (Bezostaya 1/Eunpamil) combined by chromosome switch, which its grain yield and SCA-effect were higher.

• The Journal of the Institute of Internet, Broadcasting and Communication
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• v.12 no.2
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• pp.159-165
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• 2012

This paper deals with the performance comparison of adaptive equalization algorithm, MMA and SCA, that is used for the minimization of the distortion and noise effect in the communication channel.. The transmitting signal will be distorted and received due to the nonlinearties of magnitude and phase transfer characteristics of communication channel, the compensation of it by using the self adaptive equalizer. The constant modulus has important metric in the self adaptive equalizer, the MMA uses the 2nd and 4th high order statistics of transmitting signal, the SCA uses the 2nd order statistics of transmitting signal only in order to the calculation of it. We compared to the compensation performance of the MMA and SCA by the computer simulation that are possible to the compensation of the two kinds of transfer characteristics at same times by the relatively simple arithmatic operation. We used to the recovered constellation, residual isi and MSE, SER that are the essential index for the comparison of the adaptive equalizer. The result of performance comparison of algorithms, the MMA which uses the high order statistics of transmitting signal has good performance in the MSE and SER compared to the SCA which is using the low order statistics. But in the recovered costellation and residual isi, the SCA has a good than the MMA.

• The Journal of the Institute of Internet, Broadcasting and Communication
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• v.13 no.4
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• pp.67-73
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• 2013

This paper relates with the performance of VSCA adaptive equalization algorithm that is used for the minimization of the intersymbol interference due to the distortion which occurs in the time dispersive channel for the transmission of 16-QAM signal. In the conventional SCA, it is possible to compensates the amplitude and phase in the received signal that are mixed with the intersymbol interference by the constellatin dependent constant by using the 2nd order statistics of the transmitted signal. But in the VSCA, it is possible to the increase the equalization performance by adding the concept of distance adjusted approach for constellation matching. We compare the performance of VSCA and SCA algorithm by computer simulation. For this, the equalizer output signal constellation, residual isi, maximum distortion and MSE were used for perfomance comparison. It was confirmed that, the VSCA algorithm has better than the SCA in every performance index by computer simulation.

• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.425-432
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• 2005

Purpose : Polyglutamine diseases are a group of diseases caused by the expansion of a polyglutamine tract in the protein. The present study was performed to verify if polyglutamine disease transgenic Drosophila models show similar dysfunctions as are seen in human patients. Methods : Polyglutamine disease transgenic Drosophila were tested for their climbing ability. And using genetic methods, the effects of anti-apoptotic gene bcl-2 and chemical chaperones on neurodegeneration were observed. Also, spinocerebellar ataxia 2 (SCA2) transgenic Drosophila lines were generated for future studies. Results : Expanded forms of spinocerebellar ataxia 3 (SCA3) transgenic protein causes characteristic locomotor dysfunction when expressed in the nervous system of Drosophila but the anti-apoptotic gene bcl-2 shows no evidence of ameliorating the deleterious effect of the expanded protein. However, Glycerol, a chemical chaperone, seemed to reduce the toxicity, at least in the eyes of the transgenic flies. The level SCA2 expression is too weak in the transgenic SCA2 Drosophila for evaluation. Conclusion : SCA3 transgenic Drosophila show ataxic behavior as observed in human patients. Chemical chaperones such as glycerol may prove beneficial in this class of genetic disease, which has no current method of cure.