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논문KCI 등재

근이영양증에서 면역조직화학염색의 진단적 의의

Diagnostic Significance of Immunohistochemical Staining in Muscular Dystrophy

김대성
대한신경과학회 (Korean Neurological Association)|2006.02|대한신경과학회지 (Journal of the Korean Neurological Association)|제24권 제1호|pp. 1-13

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참고문헌

주제분류신경과학

초록

근이영양증에서 IHC 검사는 그 아형 진단을 위해서, 그리고 근이영양증 연구의 시발점이라는 점에서 매우 중요한 검사기법이지만, 일부 아형만을 검출할 수 있다는 한계점이 있고 해석에 혼동을 줄 수 있는 여러 가지 요인들이 있으므로 검사에 필요한 인력과 비용을 감안해 각 의료기관의 여건이나 연구자의 목적에 따라 적절히 선택하여야 할 것이다.

Abstract

Muscular dystrophy (MD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins, and it is now classified according to the results of the linkage analysis and the genes or proteins affected. Except for some subtypes of MD presenting with characteristic manifestations, differential diagnosis is always a challenging task to clinicians because of the similarities in clinical features and muscle pathology findings between subtypes. The immunohistochemical stain (IHC) using a biopsied skeletal muscle is an effective and simplest way to identify defective proteins in MD, so that we can classify MD into its subtypes and target the affected gene. The frozen muscle sections are used for the IHC, and specialized procedures of fixation, blocking, antibody reaction, and detection are serially performed. By using sets of commercially available antibodies, we can identify many different subtypes of MD, which include dystrophinopathies, several forms of limb-girdle muscular dystrophies, and subgroups of congenital muscular dystrophies. Although each disease shows its own characteristic patterns on IHC, there are some exceptional cases including normal expression of the mutated protein and secondary loss of the unaffected protein. Since the quality of the IHC results largely depends on technique and experience, the choice of antibody panel for IHC should be individualized in each laboratory considering the number of muscle biopsy requests, available technicians, and expenses for the study.

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