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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 537 - 541 (5page)
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초록· 키워드
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Background and Purpose This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea. Methods The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014. Results The mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients. Conclusions South Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.
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참고문헌 (27)
참고문헌 신청
Saraiva MJ / 2001 / Transthyretin mutations in hyperthyroxinemia and amyloid diseases / Hum Mutat 17:493~503
Ikeda S / 2002 / Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity / Neurology 58:1001~1007
Sousa A / 1995 / Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal) / Am J Med Genet 60:512~521
Holmgren G / 1988 / Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis / Clin Genet 33:176~180
Coelho T / 2013 / THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis / Curr Med Res Opin 29:63~76
Ikeda S / 2002 / Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity / Neurology 58:1001~1007
Sousa A / 1995 / Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in Povoa do Varzim and Vila do Conde (north of Portugal) / Am J Med Genet 60:512~521
Holmgren G / 1988 / Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis / Clin Genet 33:176~180
Coelho T / 2013 / THAOS - The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis / Curr Med Res Opin 29:63~76
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