• Title/Summary/Keyword: Muscular diseases

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Polyglutamine Residues from Machado-Joseph Disease Gene Enhance Formation of Aggregates of GST-Polyglutamine Fusion Protein in E. coli

  • Rhim, Hyang-Shuk;Bok, Kyoung-Sook;Chang, Mi-Jeong;Kim, In-Kyung;Park, Sung-Sup;Kang, Seong-Man
    • Journal of Microbiology and Biotechnology
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    • v.8 no.6
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    • pp.663-668
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    • 1998
  • Several neurodegenerative diseases such as Huntington's disease, dentatorubralpallidoluysian atrophy, spinobulbar muscular atrophy, Machado-Joseph disease, and spinocerebellar ataxias type 1 are associated with the aggregation of expanded glutamine repeats within their proteins. Generally, in clinically affected individuals, the expansion of the polyglutamine sequences is beyond 40 residues. To address the length of polyglutamine that forms aggregation, we have constructed plasmids encoding glutathione S-transferase (GST) Machado-Joseph disease gene fusion proteins containing polyglutamine and investigated the formation of aggregates in E. coli. Surprisingly, even $(Gin)_8$, in the normal range as well as $(Gin)_{65}$ in the pathogenic range enhanced the formation of insoluble protein aggregates, whereas $(Ser)_8$, and $(Aia)_8$, did not form aggregates. Our results indicate that the formation of protein aggregates in GST-polyglutamine proteins is specifically mediated by the polyglutamine repeat sequence within their protein structure. Our study may contribute to the understanding of the molecular mechanism of the formation of protein aggregates in neurodegenerative disorders and the development of preventative strategies.

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Meeting the meat: delineating the molecular machinery of muscle development

  • Jan, Arif Tasleem;Lee, Eun Ju;Ahmad, Sarafraz;Choi, Inho
    • Journal of Animal Science and Technology
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    • v.58 no.5
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    • pp.18.1-18.10
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    • 2016
  • Muscle, studied mostly with respect to meat production, represents one of the largest protein reservoirs of the body. As gene expression profiling holds credibility to deal with the increasing demand of food from animal sources, excessive loss due to myopathies and other muscular dystrophies was found detrimental as it aggravates diseases that result in increased morbidity and mortality. Holding key point towards improving the developmental program of muscle in meat producing animals, elucidating the underlying mechanisms of the associated pathways in livestock animals is believed to open up new avenues towards enhancing the lean tissue deposition. To this end, identification of vital candidate genes having no known function in myogenesis, is believed to increase the current understanding of the physiological processes going on in the skeletal muscle tissue. Taking consequences of gene expression changes into account, knowledge of the pathways associated with their activation and as such up-regulation seems critical for the overall muscle homeostasis. Having important implications on livestock production, a thorough understanding of postnatal muscle development seems a timely step to fulfil the growing need of ever increasing populations of the world.

Risk Assessment in the Loaded Works of Muscular Skeletal Disorder for Mid-old Aged General Hospital Dining Workers (중고령 종합병원 식당종사자의 근골격계 부담 작업에 대한 위험성 평가)

  • Kim, Hee-Soo;You, Young-Youl
    • Journal of the Ergonomics Society of Korea
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    • v.29 no.3
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    • pp.375-382
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    • 2010
  • The purpose of this study was to analyze the risk factors of the musculoskeletal workload of mid-old-age food preparation workers by identifying the differences in the complaints of subjective symptoms between mid-old-age housewives and mid-old-age food preparation workers. This study was carried out on a total of 83 subjects from April 2009 through July 2009: 43 food preparation workers at the catering department of general hospital A, with a high rate of mid-old-age food preparation staff, and 40 full-time housewives (40~59 years old). The analysis of the relationship between the rates of the subjective symptoms of the two groups showed that the mid-old-age food preparation workers had a 7.8-fold higher risk of developing musculoskeletal diseases than the full-time housewives. The musculoskeletal workload of the mid-old-age food preparation workers included repetitive motions, uncomfortable postures, and heavy lifting. It is hoped that this study will help provide mid-old-age people with opportunities for appropriate economic activity and labor and will help improve their work postures and methods as well as their environmental-risk factors.

A Case of Perinatal Varicella Infection (Perinatal Varicella Infection 1례)

  • Rho, Jeong A;Rho, Young Il;Kim, Eun Young;Park, Sang Kee
    • Clinical and Experimental Pediatrics
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    • v.46 no.10
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    • pp.1047-1050
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    • 2003
  • Maternal varicella resulting in viremia may transmit the virus to the fetus by either transplacental spread, or by ascending infection from lesion in the birth canal. The characteristic symptoms consist of skin lesions in dermatomal distribution, eye diseases, neurological defects, and limb hypoplasia. Varicella of the newborn is a life-threatening illness that may occur when a newborn is delivered either within five days of the onset of the illness or after postdelivery exposure to varicella. The severity of neonatal disease is dependent upon the timing of maternal illness. The clinical approach to varicella of newborns should emphasize prevention. Our patient was the first child of a 31-year-old mother who had varicella-zoster ten days before delivery. The child showed muscular hypotonia, poor feeding but no skin lesions.

Scaling experience and related factors in people diagnosed with rheumatoid arthritis (류마티스 관절염 진단자의 치석제거 경험과 관련요인)

  • Kim, Ji-Hyun;Kim, Min-Young
    • Journal of Korean society of Dental Hygiene
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    • v.16 no.6
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    • pp.1105-1114
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    • 2016
  • Objectives: The purpose of this study was to examine the scaling experience and related factors of people diagnosed with rheumatoid arthritis. Methods: The subjects were 30,680 people diagnosed with rheumatoid arthritis from the 2014 community health survey who were $${\geq_-}19$$ years old. Data were analyzed by chi-square test and multiple logistic regression analysis. Results: Those having regular scaling included well educated people, drinkers, more than three times tooth brushing practice, and regular dental checkup. The respondents were in the higher quartile of income And the respondents who were in the higher quartile of income were less likely to have scaling experience (p<0.05). Conclusions: The scaling experience was closely related with the age, educational level, residential area, income, drinking, tooth brushing practice, and regular dental checkup. It is necessary to investigate the influencing factors of rheumatoid arthritis and periodontal diseases in the further studies.

Effects of Instability Tools on Muscles Activities in Lunge Exercise in Healthy Adult Males

  • Kim, KwangSu;Lee, JaeHong;Lee, JinHwan;Lee, JaeKwang
    • The Journal of Korean Physical Therapy
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    • v.31 no.6
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    • pp.363-367
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    • 2019
  • Purpose: This study was to investigate the effect of instability on the activation of lower limb muscles during lunge exercise. Methods: The study subjects were healthy twenties and were selected to have no orthopedic or neurological diseases. 1) Flat lunge exercise (Lunge 1, 2) Lunge exercise on TOGU (Lunge 2, 3) Holding the olympic bar and moving the lunge on TOGU (Lunge 3, 4) Holding the Surge and moving the lunge on TOGU (Lunge 4). Through the above four actions, we can see how the top-down instability influences the lower limb unlike the Bottom-up instability. EMG attachment sites were gluteus medius, vastus medialis, gastrocnemius, tibialis anterior. Results: These result suggest that exercise using Lunge 4 activity was the highest in muscle activity compared to other exercises, but vastus medialis showed the highest muscle activity in Lunge 2 exercise(p<0.05). Conclusion: This study showed the muscular activity of the lower extremities according to the lunge exercise using the instability tools.

A Lipid-derived Endogenous Inducer of COX-2: a Bridge Between Inflammation and Oxidative Stress

  • Uchida, Koji
    • Molecules and Cells
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    • v.25 no.3
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    • pp.347-351
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    • 2008
  • Several lines of evidence indicate that the oxidative modification of protein and the subsequent accumulation of the modified proteins have been found in cells during aging, oxidative stress, and in various pathological states including premature diseases, muscular dystrophy, rheumatoid arthritis, and atherosclerosis. The important agents that give rise to the modification of a protein may be represented by reactive aldehydic intermediates, such as ketoaldehydes, 2-alkenals and 4-hydroxy-2-alkenals. These reactive aldehydes are considered important mediators of cell damage due to their ability to covalently modify biomolecules, which can disrupt important cellular functions and can cause mutations. Furthermore, the adduction of aldehydes to apolipoprotein B in low-density lipoproteins (LDL) has been strongly implicated in the mechanism by which LDL is converted to an atherogenic form that is taken up by macrophages, leading to the formation of foam cells. During the search for an endogenous inducer of cyclooxygenase-2 (COX-2), an inducible isoform responsible for high levels of prostaglandin production during inflammation and immune responses, 4-hydroxy-2-noennal (HNE), one of the most representative lipid peroxidation product, has been identified as the potential inducer of COX-2. In addition, the following study on the molecular mechanism of the COX-2 induction by HNE has unequivocally established that a serum component, which is eventually identified to be denatured LDL, is essential for COX-2 induction. Here I review current understanding of the mechanisms by which HNE in cooperation with the serum component activates gene expression of COX-2.

The Effect of Spor ts Taping on Lower Extremity Muscles in Ver tical Jump (수직점프 시 스포츠 테이핑이 하지의 운동학적 변인에 미치는 영향)

  • Lee, Jong-Hun;Lee, Young-Sik
    • Korean Journal of Applied Biomechanics
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    • v.20 no.4
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    • pp.407-414
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    • 2010
  • The purpose of this study was to evaluate the effect of taping-tape with or without using spiral taping on vertical jump. The subjects for this study were about 20 years old healthy male college students without muscloskeletal diseases. Data for EMG activity and Ground Reaction Force(GRF) were estimated at three knee angles(i.e., 45, 90 & full degree). As a result, there was no statistical significance in max GRF at 90 and full degree regardless of spiral taping-tape. On the other hand, statistical significance was found when vertically jumping at 45 degree knee angle(p<.05). All the data for EMG activity at the three knee angles were not statistically significant, but there was a trend for a decrease in average EMG activity in elector spinae & Medial gastrocnemius at 90 degree knee angle. Based on these data, initial flexor action of knee was stabilized with spiral taping-tape when vertically jumping, resulting in improved muscular activity in Medial gastrocnemius. In conclusion, taping technique for jumping ability associated muscles like quadriceps is also required to develop.

Neuralgic Amyotrophy of the Lower Extremity in a Neuropsychiatric Patient: A Case Report (신경정신병 환자의 하지에서 발생한 신경통성 근위축증: 증례보고)

  • Moon, Won Sik;Mo, Sang Jun;Bae, Min Joon;Hwang, Ki Hun
    • Journal of Electrodiagnosis and Neuromuscular Diseases
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    • v.20 no.2
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    • pp.124-129
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    • 2018
  • Neuralgic amyotrophy (NA) is an idiopathic disease characterized by muscular atrophy accompanied by neuralgia, where acute pain in the limb, mostly including the shoulders, leads to muscle weakeness and atrophy in the limb days to weeks after the onset of pain. Although its exact pathogenesis is unknown, genetic and nongenetic factors, such as infection, surgery, and trauma are suspected contributors. We report this case as we diagnosed NA of the right lower limb via enhanced MRI as well as EMG and have followed up the patient's prognosis and radiologic changes for one and a half years. In addition, the patient had been diagnosed with neuropsychiatric disorders, such as major depressive disorder and somatic symptom disorder.

Charcot-Marie-Tooth Disease Type 1A Diagnosed Based on Abnormalities in a Nerve Conduction Study in a Patient with Myotonic Dystrophy Type 1: A Case Report (신경전도검사의 이상소견을 보이는 근긴장디스트로피 환자에서 진단된 1형 샤르코-마리-투스 병: 증례보고)

  • Lee, Hyung Nam;Won, Yu Hui
    • Journal of Electrodiagnosis and Neuromuscular Diseases
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    • v.20 no.2
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    • pp.148-152
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    • 2018
  • Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder and one of the most common muscular dystrophies affecting adults. Charcot-Marie-Tooth (CMT) disease, a common hereditary neuropathy, is characterized by atrophy of the distal limbs and peripheral nerve abnormalities. The authors report a rare case involving a 24-year-old female who was diagnosed simultaneously with both DM1 and CMT1A based on the results of a nerve conduction study (NCS). The patient, who had previously been diagnosed with DM1, was admitted for lower extremity pain. Her electrodiagnostic examination continued to reveal severe sensorimotor demyelinating polyneuropathy, and a genetic study was performed to confirm whether she had other hereditary neuropathies, except DM1, that suggested CMT1A, the most common phenotype of CMT. Severe abnormalities in an NCS in a DM1 patient may suggest the incidental coexistence of hereditary neuropathies, and further evaluations, such as genetic studies, should be performed for proper diagnosis.