A novel fibrinogen mutation: FGA g. 3057 C > T (p. Arg104 > Cys) impairs fibrinogen secretion.

ABSTRACT:

Background

Abnormal fibrinogens can be caused by clinically silent hereditary mutations. A new case was detected accidentally in an 11-year-old girl when routine pre-operative coagulation tests were performed for nasal turbinate surgery.

Methods

The fibrinogen genes FGA, FGG and FGB were sequenced using standard protocols. The kinetics of fibrin formation were followed by turbidity at 350 nm. Purified fibrinogen was incubated with plasmin, and the degradation products analyzed by SDS/PAGE. The formation of fibrinogen-albumin complexes was analyzed by immunobloting. Fibrin structure was examined in a Nikon Eclipse TE 2000-U laser microscope. Secretion of the variant protein was analyzed directly by reverse phase-electrospray time of flight-mass spectrometry (TOF-MS).

Resul

SUBMITTER: Marchi R 

PROVIDER: S-EPMC5741905 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature