Direct molecular diagnosis of Friedreich ataxia

US6150091A · kind A · utility

Assignees

• Baylor College of Medicine · US
• INSERM · FR

Inventors

• Massimo Pandolfo · Graglia, IT
• Laura Montermini · Milano, IT
• Maria D. Molto · València, ES
• Michael Koenig · Dormagen, DE
• Victoria Campuzano · Strasbourg, FR
• Mireille Cossee · Strasbourg, FR

Key dates

• Filing date: Mar 6, 1996
• Grant date: Nov 21, 2000
• Expiry date: Mar 6, 2016

Classification

• Technology area (CPC Y): Emerging Cross-Sectional Technologies
• CPC primary: Y10S435/81
• WIPO field: Pharmaceuticals
• WIPO sector: Chemistry

Abstract

This invention relates generally to methods for the diagnosis and therapeutic treatment of Friedreich Ataxia. Friedreich ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous system and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. The gene encodes a 210 amino acid protein, frataxin, that has homologues in distant species such as C. elegans and yeast. A few FRDA patients have been found to have point mutations in X25, but the vast majority are homozygous for a variable, unstable GAA trinucleotide expansion in the first X25 intron. Mature X25 mRNA was severely reduced in abundance in individuals with FRDA. Carriers and individuals at risk for developing FRDA can be ascertained by the methods of the present invention. Further, the methods of the present invention provide treatment to those individuals having FRDA.