Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich’s Ataxia

• Published in: Analytical chemistry (Washington) Vol. 90; no. 3; pp. 2216 - 2223
• Main Authors: Guo, Lili, Wang, Qingqing, Weng, Liwei, Hauser, Lauren A, Strawser, Cassandra J, Rocha, Agostinho G, Dancis, Andrew, Mesaros, Clementina, Lynch, David R, Blair, Ian A
• Format: Journal Article
• Language: English
• Published: United States American Chemical Society 06.02.2018
• Subjects: Adolescent; Adult; Assaying; Ataxia; Biomarkers; Biomarkers - blood; Blood platelets; Blood Platelets - chemistry; Chemistry; Child; Chromatography; Chromatography, Liquid - methods; Dilution; Dimensional stability; Erythrocytes; Female; Frataxin; Friedreich Ataxia - diagnosis; Friedreich's ataxia; Gene expression; High performance liquid chromatography; Humans; Iron-Binding Proteins - blood; Liquid chromatography; Male; Mass spectrometry; Mass Spectrometry - methods; Mass spectroscopy; Middle Aged; Mitochondria; Platelets; Proteins; Rare Diseases - diagnosis; Sensitivity and Specificity; Spectroscopy; Stable isotopes; Therapeutic applications; Young Adult

Friedreich’s ataxia (FA) is an autosomal recessive disease caused by an intronic GAA triplet expansion in the FXN gene, leading to reduced expression of the mitochondrial protein frataxin. FA is estimated to affect 1 in 50 000 with a mean age of death in the fourth decade of life. There are no appro...