Variant transthyretin (TTR) amyloidosis in Argentina. Detection of the trait by electrospray ionization mass spectrometry of lyophilized TTR immunoprecipitate
Jc. Lendoire et al., Variant transthyretin (TTR) amyloidosis in Argentina. Detection of the trait by electrospray ionization mass spectrometry of lyophilized TTR immunoprecipitate, SC J CL INV, 59(8), 1999, pp. 613-618
Citations number
21
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Medical Research General Topics
Journal title
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
We have developed a quick and reliable diagnostic method for detecting vari
ant forms of transthyretin (TTR); namely, centrifugal concentration followe
d by electrospray ionization mass spectrometry (ESI-MS). Argentinian patien
ts from three families with neuropathic amyloidosis and their relatives wer
e screened for mutated TTR by ESI-MS. In order to facilitate transportation
, we investigated the impact storage had on lyophilized anti-TTR-antibody p
recipitates' mass spectra. For this investigation, plasma samples from thre
e Swedish patients with known TTR amyloidosis were analysed. We detected id
entical, additional peaks corresponding to a variant form of TTR in 10 memb
ers of the families, and also in a lyophilized sample sent unfrozen by mail
from Argentina. All except one symptomatic subject had additional peaks, t
he exception having undergone a liver transplantation for the disease. All
patients were early onset cases, i.e. below 35 years of age, and family his
tory suggests an aggressive, rapidly progressing disease. Lyophilized anti-
TTR-antibody precipitates stored at room temperature for 1 week exhibited o
nly minor differences compared with plasma samples stored at -70 degrees C.
In a new Argentinian study on familial amyloidotic polyneuropathy, the var
iant TTR was quickly identified and typed by ESI-MS. To facilitate transpor
tation, dry-frozen samples can be used and the quality of the spectra is si
milar to that of samples stored at -70 degrees C.