• 대한영상의학회지
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• 제83권6호
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• pp.1360-1365
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• 2022

Hutchinson-Gilford progeria 증후군(syndrome) (이하 HGPS)은 심혈관 및 뇌혈관 질환의 조기 이환율을 갖는 드문 진행성 조기 노화 증후군이다. 임상증상은 매우 다양하여 성장 부진, 경피증, 탈모증, 골다공증과 같은 비특이적 증상 외에도 가속화된 혈관 노화에 의해 유년기 및 청소년기에 발생하는 고혈압과 심뇌혈관 질환을 포함한다. HGPS 환자에게 자기공명 혈관조영술은 무증상 뇌졸중 또는 혈관 변화를 조기에 진단하고 뇌혈관 질환의 위험성 증가를 평가하기 위해 권장된다. 이 증례 보고는 전형적인 임상 특징을 보인 5세 환아에서 유전자분석으로 확진된 국내 두 번째 HGPS이며, 뇌 자기공명 혈관조영술 소견을 제시한 국내 최초 영문 증례 보고이다.

• Molecules and Cells
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• 제42권3호
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• pp.210-217
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• 2019

The maintenance of mitochondrial function is closely linked to the control of senescence. In our previous study, we uncovered a novel mechanism in which senescence amelioration in normal aging cells is mediated by the recovered mitochondrial function upon Ataxia telangiectasia mutated (ATM) inhibition. However, it remains elusive whether this mechanism is also applicable to senescence amelioration in accelerated aging cells. In this study, we examined the role of ATM inhibition on mitochondrial function in Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) cells. We found that ATM inhibition induced mitochondrial functional recovery accompanied by metabolic reprogramming, which has been known to be a prerequisite for senescence alleviation in normal aging cells. Indeed, the induced mitochondrial metabolic reprogramming was coupled with senescence amelioration in accelerated aging cells. Furthermore, the therapeutic effect via ATM inhibition was observed in HGPS as evidenced by reduced progerin accumulation with concomitant decrease of abnormal nuclear morphology. Taken together, our data indicate that the mitochondrial functional recovery by ATM inhibition might represent a promising strategy to ameliorate the accelerated aging phenotypes and to treat age-related disease.