Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay

Human Heredity

Volumn 49, Issue 4, 1999, Pages 186-189

  Nakamura, Masaaki ^a   Yamashita, Taro ^c   Ando, Yukio ^c,d   Asl, Kamran Hamidi ^a   Tashima, Kazuhiro ^c   Ohlsson, Per Ingvar ^d   Kususe, Yukio ^e   Benson, Merrill D ^a,b,f  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RICHARD L ROUDEBUSH VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^d UMEÅ UNIVERSITY   (Sweden)

^e N   (Japan)

^f Dept of Med Biochem and Biophys Umeå University ^*  (United States)

Author keywords

Electrospray ionization mass spectrometry; Familiar amyloidotic polyneuropathy; Ile49; Nonisotopic RNase cleavage assay; Transthyretin

Indexed keywords

ISOLEUCINE; PLASMA PROTEIN; PREALBUMIN; RIBONUCLEASE; THREONINE;

AGED; AMYLOID NEUROPATHY; ARTICLE; CASE REPORT; CODON; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; GENETIC VARIABILITY; HUMAN; JAPAN; MASS SPECTROMETRY; MOLECULAR WEIGHT; MUTATION;

EID: 0032782741     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022872     Document Type: Article

References (20)

1. Araki S: Type I familial amyloidotic polyneuropathy (Japanese type). Brain Dev 1984;6: 128-133.
2. Benson MD: Familial amyloidotic polyneuropathy. Trends Neurosci 1989;12:88-92.
3. Benson MD: Amyloidosis: in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): Metabolic and molecular bases of inherited disease, ed. 7. New York, McGraw-Hill, 1995, pp 4159-4191.
4. Saraiva MJM: Transthyretin mutations in health and disease. Hum Mutat 1996;5:191-196.
5. Benson MD, Uemichi T: Transthyretin amyloidosis. Amyloid: Int J Exp Clin Invest 1996;3: 44-56.
6. 30). Clin Genet 1991;40:242-246.
7. Coelho T: Familial amyloidotic polyneuropathy: New development in genetics and treatment. Curr Opin Neurol 1996;9:355-359.
8. Ikeda S, Takei Y, Yanagisawa N, Matsunami H, Hashikura Y, Ikegami T, Kawasaki S: Peripheral nerves regenerated in familial amyloid polyneuropathy after liver transplantation. Ann Intern Med 1997;127:618-620.
9. Ando Y, Suhr O, Tashima K, Uchino M, Ando M: Liver transplantation in Japanese patients with familial amyloidotic polyneuropathy. Lancet 1997;350:593-594.
10. Ando Y, Ohlsson P-I, Suhr O, Nyhlin N, Yamashita T, Holmgren G, Danielsson A, Sandgren O, Uchino M, Ando M: A new simple and rapid screening method for variant transthyretin-related amyloidosis. Biochem Biophys Res Commun 1996;228:480-483.
11. Madisen L, Hoar DI, Holroyd CD, Crisp M, Hodes ME: DNA banking: The effects of storage of blood and isolated DNA on the integrity of DNA. Am J Med Genet 1987;27:379-390.
12. Nichols WC, Benson MD: Hereditary amyloidosis: Detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet 1990;37: 44-53.
13. Tsuzuki T, Mita S, Maeda S, Araki S, Shimada K: Structure of human prealbumin gene. J Biol Chem 1985;260:12224-12227.
14. Tashima K, Ando Y, Ando E, Tanaka Y, Ando M, Uchino M: Heterogeneity of clinical symptoms in patients with familial amyloidotic polyneuropathy (FAP TTR Met30). Amyloid: Int J Exp Clin Invest 1997;4:108-111.
15. Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M: Familial carpal tunnel syndrome due to amyloidogenic transthyretin His114 variant. Neurology 1994;44: 315-318.
16. Zeldenrust SR, Skinner M, Harding J, Skare J, Benson MD: A new transthyretin variant (His69) associated with vitreous amyloid in an FAP family. Amyloid: Int J Exp Clin Invest 1994;1:17-22.
17. Vidal R, Garzuly F, Budka H, Lalowski M, Linke RP, Brittig F, Frangione B, Wisniewski T: Meningoccrebrovascular amyloidosis associated with a novel transthyretin (TTR) missense mutation at codon 18 (TTRD18G). Am J Pathol 1996;148:361-366.
18. Hayashi K: PCR-SSCP: A method for detection of mutations. GATA 1992;9:73-79.
19. Hayashi K, Yandell DW: How sensitive is PCR-SSCP? Hum Mutat 1993;2:338-346.
20. Goldrick MM, Kimball GR, Liu Q, Martin LA, Sommer SS, Tseng JY-H: NIRCA™: A rapid robust method for screening for unknown point mutations. Biotechniques 1996;21:106-112.