A new diagnostic procedure to detect unknown transthyretin (TTR) mutations in familial amyloidotic polyneuropathy (FAP)

Journal of the Neurological Sciences

Volumn 173, Issue 2, 2000, Pages 154-159

  Yamashita, Taro ^a   Ando, Yukio ^a   Suhr, Ole Bernt ^b   Nakamura, Masaaki ^a   Sakashita, Naomi ^a   Ohlsson, Per Ingvar ^b   Terazaki, Hisayasu ^a   Obayashi, Konen ^a   Uchino, Makoto ^a   Ando, Masayuki ^a  

^a KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^b UMEÅ UNIVERSITY   (Sweden)

Author keywords

Diagnosis; Familial amyloidotic polyneuropathy (FAP); Mass spectrometry; Mutation; Single strand conformation polymorphism (SSCP)

Indexed keywords

AMYLOID; PREALBUMIN;

ADULT; AMYLOID NEUROPATHY; AMYLOIDOSIS; ARTICLE; CASE REPORT; CELL MIGRATION; DIAGNOSTIC ACCURACY; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MASS SPECTROMETRY; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SUBSTITUTION; AMYLOID; AMYLOID NEUROPATHIES; CENTRIFUGATION; COLORING AGENTS; CONGO RED; CYSTEINE; EXONS; FEMALE; GENETIC SCREENING; GLYCINE; HUMANS; MALE; MASS SPECTROMETRY; MIDDLE AGED; MOLECULAR WEIGHT; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREALBUMIN;

EID: 0034651822     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(99)00326-3     Document Type: Article

References (35)

1. Glenner G.G. Amyloid deposits and amyloidosis: the beta-fibrilloses (second of two parts). New Engl J Med. 302:1980;1333-1343.
2. Gustavsson Å., Jahr H., Tobiassen R., Jacobson D.R., Sletten K., Westermark P. Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis. Lab Invest. 73:1995;703-708.
3. Christmanson L., Betsholtz C., Gustavsson Å., Johansson B., Sletten K., Westermark P. The transthyretin cDNA sequence is normal in transthyretin-derived senile systemic amyloidosis. FEBS Lett. 281:1991;177-180.
4. Ando Y., Ikegawa S., Miyazaki A., Inoue M., Morino Y., Araki S. Role of variant prealbumin in the pathogenesis of familial amyloidotic polyneuropathy: fate of normal and variant prealbumin in the circulation. Arch Biochem Biophys. 274:1989;87-93.
5. Yi S., Takahashi K., Naito M., Tashiro F., Wakasugi S., Maeda S., Shimada K., Yamamura K., Araki S. Systemic amyloidosis in transgenic mice carrying the human mutant transthyretin (Met30) gene. Pathologic similarity to human familial amyloidotic polyneuropathy. Am J Pathol. 138:1991;403-412.
6. Almeida M.R., Ferlini A., Forabosco A., Gawinowicz M., Costa P.P., Salvi F., Plasmati R., Tassinari C.A., Altland K., Saraiva M.J. Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. Hum Mutat. 1:1992;211-215.
7. Nichols W.C., Liepnieks J.J., Snyder E.L., Benson M.D. Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). J Lab Clin Med. 117:1991;175-180.
8. Ueno S., Uemichi T., Takahashi N., Soga F., Yorifuji S., Tarui S. Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). Biochem Biophys Res Comm. 169:1990;1117-1121.
9. Ando Y., Tashima K., Tanaka Y., Nakazato M., Ericzon B.G., Duraj F.F., Sakashita N., Kimura E., Ando E., Yonehara T. Treatment of a Japanese patient with familial amyloidotic polyneuropathy with orthotopic liver transplantation. Intern Med. 33:1994;730-732.
10. Andrade C. A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with special involvement of peripheral nerves. Brain. 75:1952;408-427.
11. Araki S. Familial amyloidotic polyneuropathys. Portugese, Japanese, Swedish, British, Jewish, German-Swiss and Finnish forms. Marrink J., van Rijswijk M.H., Amyloidosis. 1986;195-218 Martinus Nijhoff Publishers, Dordrecht, The Netherlands.
12. Dwulet F.E., Benson M.D. Polymorphism of human plasma thyroxine binding prealbumin. Biochem Biophys Res Comm. 114:1983;657-662.
13. Saraiva M.J., Birken S., Costa P.P., Goodman D.S. Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin). J Clin Invest. 74:1984;104-119.
14. Tawara S., Nakazato M., Kangawa K., Matsuo H., Araki S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Comm. 116:1983;880-888.
15. Nakazato M., Kurihara T., Matsukura S., Kangawa K., Matsuo H. Diagnostic radioimmunoassay for familial amyloidotic polyneuropathy before clinical onset. J Clin Invest. 77:1986;1699-1703.
16. Holmgren G., Bergstrom S., Drugge U., Lundgren E., Nording-Sikstrom C., Sandgren O., Steen L. Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences. Clin Genet. 41:1992;39-41.
17. Terukina S., Matsuda M., Hirata H., Takeda Y., Miyata T., Takao T., Shimonishi Y. Substitution of gamma Arg-275 by Cys in an abnormal fibrinogen, `fibrinogen Osaka II'. Evidence for a unique solitary cystine structure at the mutation site. J Biol Chem. 263:1988;13579-13587.
18. Kishikawa M., Nakanishi T., Miyazaki A., Shimizu A., Nakazato M., Kangawa K., Matsuo H. Simple detection of abnormal serum transthyretin from patients with familial amyloidotic polyneuropathy by high-performance liquid chromatography/electrospray ionization mass spectrometry using material precipitated with specific antiserum. J Mass Spec. 31:1996;112-114.
19. Ando Y., Ohlsson P.I., Suhr O., Nyhlin N., Yamashita T., Holmgren G., Danielsson Å., Sandgren O., Uchino M., Ando M. A new simple and rapid screening method for variant transthyretin-related amyloidosis. Biochem Biophys Res Comm. 228:1996;480-483.
20. Orita M., Iwahana H., Kanazawa H., Hayashi K., Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA. 86:1989;2766-2770.
21. Suzuki Y., Sekiya T., Hayashi K. Allele-specific polymerase chain reaction: a method for amplification and sequence determination of a single component among a mixture of sequence variants. Anal Biochem. 192:1991;82-84.
22. Sandra L., Spurgeon S.L., Chen S.M., Koepf S.M. Improvements in dye primer and dye terminater sequencing with ampliTaq DNA polymerase, FS. Microbiol Conp Genom. 3:1996;245-246.
23. Lee L.G., Spurgeon S.L., Heiner C.R., Benson S.C., Rosenblum B.B., Menchen S.M., Graham R.J., Constantinescu A., Upadhya K.G., Cassel J.M. New energy transfer dyes for DNA sequencing. Nucleic Acids Res. 25:1997;2816-2822.
24. Nishi H., Kimura A., Harada H., Hayashi Y., Nakamura M., Sasazuki T. Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. Biochem Biophys Res Comm. 187:1992;460-466.
25. Saeki Y., Ueno S., Takahashi N., Soga F., Yanagihara T. A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker. FEBS Lett. 308:1992;35-37.
26. Uemichi T., Murrell J.R., Zeldenrust S., Benson M.D. A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. J Med Genet. 29:1992;888-891.
27. Nelis E., Warner L.E., Vriendt E.D., Chance P.F., Lupski J.R., Van Broeckhoven C. Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies. Eur J Hum Genet. 4:1996;329-333.
28. Hayashi K. PCR-SSCP: a method for detection of mutations. Genet Anal Tech Appl. 9:1992;73-79.
29. Nakanishi T., Okamoto N., Tanaka K., Shimizu A. Laser desorption time-of-flight mass spectrometric analysis of transferrin precipitated with antiserum: a unique simple method to identify molecular weight variants. Biol Mass Spec. 23:1994;230-233.
30. Hillenkamp F., Karas M., Beavis R.C., Chait B.T. Matrix-assisted laser desorption/ionization mass spectrometry of biopolymers. Anal Chem. 63:1991;1193A-1203A.
31. Holmgren G., Steen L., Ekstedt J., Groth C.G., Ericzon B.G., Eriksson S., Andersen O., Karlberg I., Norden G., Nakazato M. Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin Genet. 40:1991;242-246.
32. Bergethon P.R., Sabin T.D., Lewis D., Simms R.W., Cohen A.S., Skinner M. Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplantation. Neurology. 47:1996;944-951.
33. Suhr O.B., Holmgren G., Steen L., Wikström L., Norden G., Friman S., Duraj F.F., Groth C.G., Ericzon B.G. Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients. Transplantation. 60:1995;933-938.
34. Herbert J., Wilcox J.N., Pham K.T., Fremeau R.T. Jr, Zeviani M., Dwork A., Soprano D.R., Makover A., Goodman D.S., Zimmerman E.A. Transthyretin: a choroid plexus-specific transport protein in human brain. Neurology. 36:1986;900-911.
35. Ando Y., Suhr O., Yamashita T., Ohlsson P.I., Holmgren G., Obayashi K., Terazaki H., Mambule C., Uchino M., Ando M. Detection of different forms of variant transthyretin (Met30) in cerebrospinal fluid. Neurosci Lett. 238:1997;123-126.