Variant transthyretin (TTR) amyloidosis in Argentina. Detection of the trait by electrospray ionization mass spectrometry of lyophilized TTR immunoprecipitate.
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.
Lendoire
J C
JC
Department of Liver Transplantation, Hospital C Argerich, Buenos Aires, The Argentine.
Trigo
P
P
Aziz
H
H
Romero
M C
MC
Inventarza
O
O
Ando
Y
Y
Tashima
K
K
Ohlsson
P I
PI
Cederquist
K
K
Holmgren
G
G
Suhr
O B
OB
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
D011228:Prealbumin