title: Variant transthyretin (TTR) amyloidosis in Argentina. Detection of the trait by electrospray ionization mass spectrometry of lyophilized TTR immunoprecipitate.
abstract: We have developed a quick and reliable diagnostic method for detecting variant forms of transthyretin (TTR); namely, centrifugal concentration followed by electrospray ionization mass spectrometry (ESI-MS). Argentinian patients from three families with neuropathic amyloidosis and their relatives were screened for mutated TTR by ESI-MS. In order to facilitate transportation, we investigated the impact storage had on lyophilized anti-TTR-antibody precipitates' mass spectra. For this investigation, plasma samples from three Swedish patients with known TTR amyloidosis were analysed. We detected identical, additional peaks corresponding to a variant form of TTR in 10 members of the families, and also in a lyophilized sample sent unfrozen by mail from Argentina. All except one symptomatic subject had additional peaks, the exception having undergone a liver transplantation for the disease. All patients were early onset cases, i.e. below 35 years of age, and family history suggests an aggressive, rapidly progressing disease. Lyophilized anti-TTR-antibody precipitates stored at room temperature for 1 week exhibited only minor differences compared with plasma samples stored at -70 degrees C. In a new Argentinian study on familial amyloidotic polyneuropathy, the variant TTR was quickly identified and typed by ESI-MS. To facilitate transportation, dry-frozen samples can be used and the quality of the spectra is similar to that of samples stored at -70 degrees C.
authors.affiliation: Department of Liver Transplantation, Hospital C Argerich, Buenos Aires, The Argentine.
authors.forename: J C
authors.initials: JC
authors.lastname: Lendoire
authors.forename: P
authors.initials: P
authors.lastname: Trigo
authors.forename: H
authors.initials: H
authors.lastname: Aziz
authors.forename: M C
authors.initials: MC
authors.lastname: Romero
authors.forename: O
authors.initials: O
authors.lastname: Inventarza
authors.forename: Y
authors.initials: Y
authors.lastname: Ando
authors.forename: K
authors.initials: K
authors.lastname: Tashima
authors.forename: P I
authors.initials: PI
authors.lastname: Ohlsson
authors.forename: K
authors.initials: K
authors.lastname: Cederquist
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
authors.forename: O B
authors.initials: OB
authors.lastname: Suhr
mesh_terms: D000293:Adolescent; D000328:Adult; D017772:Amyloid Neuropathies / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D001118:Argentina / Q000208:ethnology; D001793:Blood Preservation; D005260:Female; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D009154:Mutation; D011228:Prealbumin / Q000032:analysis* / Q000235:genetics; D013048:Specimen Handling
chemical_list: D011228:Prealbumin