• Journal of Genetic Medicine
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• 제14권2호
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• pp.75-79
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• 2017

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a later onset. Patients with BMD tend to survive much longer than those with DMD. The differentiation between DMD and BMD is important in the genetic counseling of affected patients and their families. Since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutation identified in the DMD gene in affected patients. However, when a novel DMD mutation is identified, the differential diagnosis should be based on muscle biopsy findings with other clinical findings. Here we describe two Korean patients with BMD confirmed by muscle biopsy and genetic testing. Two novel exonic deletions in the DMD gene were identified.

• Annals of Clinical Neurophysiology
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• 제19권2호
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• pp.141-144
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• 2017

In facioscapulohumeral muscular dystrophy (FSHD), prominent inflammatory cellular infiltrates mimicking inflammatory myopathies are often observed in muscle biopsies. We report extensive inflammatory changes in a 16-year-old girl who was genetically confirmed as to have FSHD. Immunohistochemical staining revealed that this could be clearly distinguished from inflammatory myopathies, both in terms of cell subsets and the expression of antigenic targets. Our observations strongly suggest that the inflammatory cellular infiltrates in FSHD differ from those observed in inflammatory myopathies.

• Journal of Interdisciplinary Genomics
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• 제1권1호
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• pp.1-5
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• 2019

Progressive weakness of skeletal muscle is the hallmark of muscular dystrophies. It is often accompanied by cardiomyopathy and respiratory insufficiency. It has generally been perceived as incurable diseases, while the advent of genetic therapy is changing the paradigm. Most research and achievements have been for the treatment of Duchenne muscular dystrophy, while it is promising to hope for therapies for other myopathies. Drugs for nonsense read-through and exon skipping are already approved for clinical use in Europe and the United States, respectively. Gene therapy using adeno-associated virus is in early phase of clinical trial. In this review, most promising genetic therapies will be briefly described.

• 대한한방내과학회지
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• 제40권1호
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• pp.1-12
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• 2019

Objective: To investigate the effect of Alpiniae oxyphyllae fructus (AOF) on the alleviation of musculoskeletal disorders caused by aging, we conducted experiments on osteoporosis and muscle atrophy. Methods: The experimental group was classified into a control group, aging-elicited (AE) group and AOF group. The control group comprised 8-week-old Institute of Cancer Research (ICR) mice. The AE and AOF groups were ICR mice at 50 weeks of age. For the AE group, 10 mL of distilled water was administered once a day for 180 days without any treatment. An AOF extract (0.54 g/kg) was dissolved in distilled water and administered to the mice in the AOF group once a day for 180 days. Results: In the experiment on the alleviation of osteoporosis, the distribution of glucosaminoglycan in the bone matrix of the femoral bone was increased in the AOF group; moreover, the osteocalcin (OCN) positive reaction was increased and 8-OHdG positivity was decreased. In addition, AOF positively decreased RANKL, positively increased OPG, and positively decreased MMP-3. Muscle fiber loss in the endomysium following muscle degeneration of the quadriceps was reduced more in the AOF group compared with the AE group, and caspase-3 positive responses were also decreased. In addition, the 8-OHdG and p-lkB positivity in the AOF group decreased compared with the AE group, and the Myo-D positivity increased. Conclusion: We found that increasing bone formation alleviates osteoporosis, and that reducing bone loss alleviates muscle atrophy by reducing muscle loss and increasing muscle development.

• 대한소아치과학회지
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• 제40권1호
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• pp.66-71
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• 2013

근이영양증은 점진적인 근육 약화를 특징으로 하는 유전질환이다. 그 중 후쿠야마 선천성 근이영양증은 상염색체 열성으로 유전되며, 영아기 초기부터 시작되어 중추신경계, 안면근 등에도 이환되고 다발성 관절구축도 나타난다. 근이영양증 환자는 호흡기계나 심장 등의 합병증 발생 위험이 있으며, 특히 흡입마취제를 이용한 전신마취 시 악성고열증 가능성이 문제가 된다. 본 증례에서는 후쿠야마 선천성 근이영양증을 가진 3세 9개월 여아의 다발성 우식증을 전정맥마취 하에 치료하였다. 전신마취 유도 및 유지를 위해 프로포폴을 효과처 농도 $3{\sim}3.5{\mu}g/mL$, 진통 효과를 위해 레미펜타닐을 1.5 ng/mL 목표농도 조절주입하였다. 적절한 마취 심도와 안정적인 생징후를 유지하며 합병증 발생없이, 후쿠야마 선천성 근이영양증 환아의 전정맥마취하 다발성 치아우식 치료가 성공적으로 이루어져 이를 보고하고자 한다.

• 대한장애인치과학회지
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• 제15권1호
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• pp.50-54
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• 2019

본 증례는 다수의 치아우식증을 주소로 내원한 근이영양증 환자의 전신마취 하 치과치료에 대한 보고이다. 근이영양증 환자들은 진행성 근육 약화로 인해 구강위생 관리하기가 힘들고 치아우식이 호발할 수 있다. 따라서 정기적으로 치과를 내원하고 올바른 구강 위생 습관을 확립할 수 있도록 환자 및 보호자교육을 실시하여야 한다. 치과치료 시에는 흡인으로 인한 호흡기 합병증이 발생하지 않도록 액체의 흡입을 주의 깊게 하여야 한다. 비협조적이거나 매우 어린 근이영양증 환자에서는 전신마취가 필요할 수 있다. 전신마취 시에는 악성 고열증의 위험 때문에 휘발성 마취제를 피해야 한다.

• Clinical and Experimental Pediatrics
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• 제55권9호
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• pp.350-353
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• 2012

An 18-year-old boy was admitted with chest discomfort, nausea, and dyspnea at rest. At the age of 3 years, he underwent muscle biopsy and dystrophin gene analysis owing to an enlarged calf muscle and elevated serum kinase level (6,378 U/L) without overt weakness; based on the results, Becker muscular dystrophy (BMD) was diagnosed. The dystrophin gene showed deletion of exons 45 to 49. He remained ambulant and could step upstairs without significant difficulties. A chest roentgenogram showed cardiomegaly (cardiothoracic ratio, 54%), and his electrocardiogram (ECG) showed abnormal ST-T wave, biatrial enlargement, and left ventricular hypertrophy. The 2-dimensional and M-mode ECGs showed a severely dilated left ventricular cavity with diffuse hypokinesis. The systolic indices were reduced, including fractional shortening (9%) and ejection fraction (19%). Despite receiving intensive medical treatment, he died from congestive heart failure 5 months after the initial cardiac symptoms. We report a case of BMD with early-onset dilated cardiomyopathy associated with deletion of exons 45 to 49. Early cardiomyopathy can occur in BMD patients with certain genotypes; therefore, careful follow-up is required even in patients with mild phenotypes of BMD.

• Molecules and Cells
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• 제25권4호
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• pp.531-537
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• 2008

Abnormal activation of nuclear factor kappa B ($NF-{\kappa}B$) probably plays an important role in the pathogenesis of Duchenne's muscular dystrophy (DMD). In this report, we evaluated the efficacy of curcumin, a potent $NF-{\kappa}B$ inhibitor, in mdx mice, a mouse model of DMD. We found that it improved sarcolemmic integrity and enhanced muscle strength after intraperitoneal (i.p.) injection. Histological analysis revealed that the structural defects of myofibrils were reduced, and biochemical analysis showed that creatine kinase (CK) activity was decreased. We also found that levels of tumor necrosis factor alpha ($TNF-\alpha$), interleukin-1 beta ($IL-1\beta$) and inducible nitric oxide synthase (iNOS) in the mdx mice were decreased by curcumin administration. EMSA analysis showed that $NF-{\kappa}B$ activity was also inhibited. We thus conclude that curcumin is effective in the therapy of muscular dystrophy in mdx mice, and that the mechanism may involve inhibition of $NF-{\kappa}B$ activity. Since curcumin is a non-toxic compound derived from plants, we propose that it may be useful for DMD therapy.

• 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.

• 한국응용과학기술학회지
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• 제37권3호
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• pp.604-612
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• 2020

The purpose of this study is to analyze the level of obesity and sarcopenia among chronic obstructive pulmonary disease(COPD) patients in Korea. The current study recruited 75 patients with COPD who visited the department of respiratory medicine at J University Hospital in J-do. Height, body weight, waist circumference, and hip circumference were measured, and body composition, muscle strength, and flexibility were assessed. The levels of obesity were classified with body mass index(BMI), waist-hip circumference ratio(WHR) and percent body fat, and sarcopenia was classified with the value of skeletal muscle mass and muscle strength by Asian Working Group for Sarcopenia. In results, it was found that the level of obesity was very high as 43% by BMI, 88% by WHR, and 64% by percent body fat. The lower level of muscle strength was 15.50% in males and 23.50% in females. The lower level of muscle mass was 24.10% in males and .00% in females. Males who had one sarcopenia factors were 22.40%, and females were 23.50%, respectively. Males with sarcopenia were 6.90%, and females were .00%. In conclusion, regular resistance exercise is essential not only for the development of motor skills, but also for the normalization of skeletal muscle function and prevention of muscle dystrophy among COPD patients.