• Annals of Clinical Neurophysiology
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• 제22권2호
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• pp.51-60
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• 2020

Muscle pathology findings may guide the diagnosis of neuromuscular disorders since they are helpful for understanding the pathological processes causing muscle weakness and also provide significant clues for the diagnosis of muscle diseases. Recent advances in molecular genetics mean that a muscle biopsy can be omitted when diagnosing inherited muscle diseases. However, the muscle pathology can still play a role in those cases and its findings are also required when diagnosing inflammatory myopathies.

• Molecules and Cells
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• 제46권1호
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• pp.10-20
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• 2023

Antisense oligonucleotide (ASO) technology has become an attractive therapeutic modality for various diseases, including Mendelian disorders. ASOs can modulate the expression of a target gene by promoting mRNA degradation or changing pre-mRNA splicing, nonsense-mediated mRNA decay, or translation. Advances in medicinal chemistry and a deeper understanding of post-transcriptional mechanisms have led to the approval of several ASO drugs for diseases that had long lacked therapeutic options. For instance, an ASO drug called nusinersen became the first approved drug for spinal muscular atrophy, improving survival and the overall disease course. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF). Although Trikafta and other CFTR-modulation therapies benefit most CF patients, there is a significant unmet therapeutic need for a subset of CF patients. In this review, we introduce ASO therapies and their mechanisms of action, describe the opportunities and challenges for ASO therapeutics for CF, and discuss the current state and prospects of ASO therapies for CF.

• 생명과학회지
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• 제26권5호
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• pp.592-602
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• 2016

풀사료를 주식으로 하며 자유롭게 방목되는 호주산 소와 곡물사료를 주식으로 하며 상대적으로 제한된 면적의 축사에서 사육되는 한국산 소의 두 가지 근육에서 디스트로핀 단백질 발현 수준을 비교하였다. 총 244 두의 식용소 도체로부터 양국에서 같은 부위의 골격근 조직을 채취하고 10% 중성 포르말린을 이용해 고정하였다. 본 연구에서 지방 침착률이 골격근 막 관련 단백질들의 소실과 밀접한 연관이 있다는 점을 발견하였는데, 특히 디스트로핀이 지방이 침착된 골격근에서 가장 유의적으로 감소하는 것을 확인하였다. 이와 동시에 CD36이 지방이 침착된 골격근에서 가장 풍부하게 발현하는 것도 확인하였다. 이렇게 정상 골격근의 구조를 유지하는 데 필요한 세포골격 단백질들의 소실에는 산화적 스트레스에서부터 사료의 종류에 따른 산화 지질 및 운동, 기후, 성장 기간 등의 환경에 이르기까지 다양한 사육 조건들이 영향을 미쳤을 것으로 여겨졌다. 디스트로핀은 근형질막 관련 단백질들 중에 근이영양증이나 근육 변성과 관계된 가장 민감한 막 단백질이다. 그러므로 본 연구는 사람의 근이영양증 관련 연구를 비롯해 동물모델을 이용하여 근육질환의 기전을 찾는 연구에도 중요한 초석이 될 것으로 보이며, 나아가 근이영양증 기전 규명을 위한 기초연구뿐만이 아니라 치료를 위한 실용화 연구에도 응용될 수 있을 것으로 사료된다.

• 한국산학기술학회논문지
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• 제12권2호
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• pp.805-812
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• 2011

이 연구의 목적은 고강도로 실시되는 12주간의 웨이트 트레이닝을 통하여 노인 여성들의 신체조성 및 기능적 체력에 어떠한 변화가 있는지를 규명하는 것이다. 연구대상자들은 U경로당에 정기적으로 출입하는 70세 이상 노인 여성 중에 실험의 취지를 알고 자발적 참여의사를 가진 24명을 선정하였다. 선정된 24명을 무선할당 방법을 통해 두 개의 운동집단인 고강도 저항성 운동 집단 (High intensity resistance group, n=8), 저강도 저항성 운동 집단(Low intensity resistance group, n=8) 그리고 비교군 (Control group, n=8)으로 나누었다. 운동집단은 12주간의 고강도 및 저강도 저항성 운동을 실시하였으며, 비교군은 12주간 어떠한 운동에도 참가하지 못하도록 제한하였다. 연구결과, 12주간 실시된 고강도 웨이트 트레이닝은 근력과 민첩성을 유의하게 향상시켰으며, 체지방률과 체지방량은 유의하게 감소시켰다(p<0.05). 평형성 및 심폐능력은 향상되었으나 통계적 유의성은 없었다. 종합해보면 정기적인 고강도 웨이트 트레이닝은 노인 여성들의 체력 개선에 도움을 줄 수 있는 운동이라 사료된다.

• Journal of Genetic Medicine
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• 제2권1호
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• pp.35-39
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• 1998

Duchenne/Becker muscular dystrophy are the major neuromuscular disorders with X-linked recessive inheritance. Preimplantation diagnosis of sex determination has been generally used to avoid male pregnancies with these diseases. However, in order to determine if the embryo is normal, carrier or affected regardless of the sex, there is a need for a combined analysis of specific exon on dystrophin gene as well as sex determination of embryo using the same biopsied blastomere. If the exon deletion is not determinable, further diagnosis of carrier or patient can be performed by haplotype analysis. In this study, we applied the primer extension preamplification (PEP) method, which amplifies the whole genome, in 40 cases of single amniocyte and 40 cases of chorionic villus cell. We analysed haplotypes using two (CA)n dinucleotide polymorphic markers located at the end of 5' and 3' region of the dystrophin gene. Exon 46 of dystrophin gene and DYZ3 on chromosome Y were chosen as a target sequence for coamplification PCR. Upon optimizing the conditions, the amplification rates were 91.25% (73/80) for haplotypes (92.5% in amniocyte, 90% in chorionic villus cell) and 88.75% (71/80) for coamplification (85% in amniocyte, 92.5% in chorionic villus cell). The result of the study indicates that haplotypes analysis and coamplification of dystrophin and Y-specific gene using PEP can be applied to prenatal and preimplantation diagnosis in Duchenne/Becker muscular dystrophy making it possible to determine if the fetus is a carrier or an affected one.

• Toxicological Research
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• 제34권1호
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• pp.13-21
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• 2018

Anthocyanins are naturally occurring water-soluble polyphenolic pigments in plants that have been shown to protect against cardiovascular diseases, and certain cancers, as well as other chronic human disorders. However, the anti-obesity effects of anthocyanins are not fully understood. In this study, we investigated the effects of anthocyanins isolated from the fruit of Vitis coignetiae Pulliat on the adipogenesis of 3T3-L1 preadipocytes. Our data indicated that anthocyanins attenuated the terminal differentiation of 3T3-L1 preadipocytes, as confirmed by a decrease in the number of lipid droplets, lipid content, and triglyceride production. During this process, anthocyanins effectively enhanced the activation of the AMP-activated protein kinase (AMPK); however, this phenomenon was inhibited by the co-treatment of compound C, an inhibitor of AMPK. Anthocyanins also inhibited the expression of adipogenic transcription factors, including peroxisome proliferator-activated receptor-${\gamma}$, CCAAT/enhancer-binding protein a and b, and sterol regulatory element-binding protein-1c. In addition, anthocyanins were found to potently inhibit the expression of adipocyte-specific genes, including adipocyte fatty acid-binding protein, leptin, and fatty acid synthase. These results indicate that anthocyanins have potent anti-obesity effects due to the inhibition of adipocyte differentiation and adipogenesis, and thus may have applications as a potential source for an anti-obesity functional food agent.

• 한국어병학회지
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• 제26권2호
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• pp.123-128
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• 2013

The outbreak of haemorrhagic speticemia and dermal lesions in cultured Rock sea breem in Jeju Island are frequently associated with keratitis. Prolonged infection leads to the symptoms accompanied by necrosis of fin and skin and the fishes died. Present study aims to study the histopathological changes of diseased fish muscle tissue. The tissue at the initial stage of infection showed normal muscular texture, however in the late stages of infection, muscular lesion had been expanded and hence, necrosis had progressed deeply into muscle tissue. Mild tissue in caudal fin was found with more necrosis, and gill tissues were also collapsed. In Kidney, renal tubules were teared along with tissue destruction (Espada, J et al, 1993). Hence in the present study, we examined the histopathological variation of the infection fishes, and this basic data would be used for future research of in haemorrhagic specticemia and dermal diseases.

• 디지털산업정보학회논문지
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• 제6권1호
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• pp.69-81
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• 2010

Physical manifestations of aging due to the lack of exercise include the slowing down of motor learning, cardiopulmonary degradation, and the increasing difficulty to adapt to the environment. Aging is manifested with the lack of aerobic exercise work, decrease in muscular endurance, decline in skeletal and muscular strength, flexibility and agility, and the decrease in reaction speed and balance. Added to those are aging-related physiological changes, including the reduction of muscle bulk, increased body fat, decrease in total body water and basic metabolic rate as activities are reduced, and a decrease in cell and Lean Body Mass (LBM). These changes are known to cause problems. Interest and participation in appropriate physical activities among the elderly is needed to help them increase stamina, avoid diseases, maintain a clear intellect, and basically enable the elderly to live their daily lives as easy as possible. Therefore, physical activities are necessary for the elderly to enhance health-related factors. Special exercises should be performed for the enhancement of muscle function, muscle endurance, flexibility, agility, and balance. An accurate measurement of cardio-respiratory endurance and stamina through basic physical and cognitive characteristics of older adults is also required to ensure safety. Also, the development of a more scientific resistance exercise prescription system for the elderly is desperately needed.

• 한국멀티미디어학회논문지
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• 제25권7호
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• pp.953-963
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• 2022

We suggest the development of a mobile muscular savings account application as a more effective and consistent strategy to avoid sarcopenia, one of the elderly diseases, based on the researcher's experience conducting a handwritten 'muscle saving account' in the S city of the metropolitan area. The analysis of currently existent healthcare-related applications shows that muscle strength improvement and maintenance applications are needed to improve easy use and access without burden for elderly users because there are many functions, and it can be difficult for the elderly to use the application. A survey of participants who used handwritten 'muscle savings accounts' was conducted before the design development to measure user satisfaction. Based on this, the suggested application's design is similar to the handwritten type, functionalities are modified for easy usage by the elderly, and information is intuitively comprehended and presented properly using color contrast and Sans serif font. We plan to conduct a survey of the elderly who did not participate in the project as part of follow-up research, and afterward continue the research on the development of customized applications optimized for the prevention of sarcopenia in the elderly for muscle strength improvement and maintenance based on the results.

• Journal of Oral Medicine and Pain
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• 제47권4호
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• pp.217-221
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• 2022

Neurogenic muscular atrophy is muscle wasting and weakness caused by trauma or disease of the nerve that innervates the muscle. We describe a case of unilateral trigeminal neuropathy and neurogenic muscular atrophy of the masticatory muscle caused by a tumor in the foramen ovale. A 59-year-old man visited our clinic complaining of difficulty in right-sided mastication. There were no evident clinical signs and symptoms of temporomandibular disorder. However, severe atrophy of the right masseter and temporalis muscles and hypesthesia of the right side mandibular nerve area were confirmed. Through T1 and T2 signals on magnetic resonance imaging (MRI), a mass suspected of a neurogenic tumor was observed in the foramen ovale and cavernous sinus. Severe atrophy of all masticatory muscles on the right side was observed. This rare case shows trigeminal neuropathy caused by a tumor around the foramen ovale and atrophy of the ipsilateral masticatory muscles. For an accurate diagnosis, it is essential to identify the underlying cause of muscle atrophy with neurologic symptoms present. This can be done through a more detailed clinical examination, including sensory testing and brain MRI, and consider a referral to neurology or neurosurgery for the differential diagnosis of the intracranial disorder.