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AssigneesBaylor College of Medicine, Inserm
InventorsMassimo Pandolfo, Laura Montermini, Maria D. Molto, Michael Koenig, Victoria Campuzano, Mireille Cossee
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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.
A method of screening individuals for a mutation that leads to Friedreich's ataxia, comprising the steps of:
A method of screening individuals for a mutation that leads to Friedreich's ataxia, comprising the steps of measuring expression of an X25 gene by determining an amount of mRNA expressed from said X25 gene and from known controls, and comparing the amount of mRNA from said X25 gene to the amount of mRNA from the known controls wherein reduced levels of said mRNA identify individuals with said mutation.
A method of screening individuals for a mutation that leads to Friedreich's ataxia, comprising the step of detecting a variation in a size of a (GAA).sub.n repeat in a first intron of a X25 gene by measuring a length of said repeat, wherein n for normal individuals ranges from 1-22 and n for affected individuals is 120 and wherein a value of n of at least 120 identifies individuals with said mutation.
A method for detecting a GAA polymorphism in a first intron of an X25 gene comprising the steps of performing a PCR assay to produce amplified products of said first intron of said X25 gene and measuring the length of said amplified products wherein an increase in length of said amplified products as compared to a control amplified product indicates the presence of said GAA polymorphisms.
A method of screening individuals for a mutation that leads to Friedreich's ataxia, comprising the steps of sequencing DNA from an individual, and comparing said sequence from said individual to SEQ ID NOS 1-12 to determine what differences there are between said sequence from said individual and SEQ ID NOS 1-12 wherein said differences are indicative of said mutation.
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Dependencies are inferred from the claim text.