Friedreich’s ataxia, the most common hereditary ataxia among white people, is caused by a trinucleotide GAA expansion in the X25 gene. Friedreich’s ataxia is characterised by a variable phenotype which may also include hypertrophic cardiomyopathy and diabetes. In this study we report an influence of the mitochondrial DNA (mtDNA) haplogroups on the Friedreich’s ataxia phenotype. Patients belonging to the U mtDNA haplogroup class were found to have a delay of 5 years in the disease onset and a lower rate of cardiomyopathy.
Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype / Giacchetti, M; Monticelli, A; DE BIASE, I; Pianese, L; Turano, Mimmo; Filla, Alessandro; DE MICHELE, Giuseppe; Cocozza, Sergio. - In: JOURNAL OF MEDICAL GENETICS. - ISSN 0022-2593. - STAMPA. - 41:(2004), pp. 293-295.
Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype.
TURANO, MIMMO;FILLA, ALESSANDRO;DE MICHELE, GIUSEPPE;COCOZZA, SERGIO
2004
Abstract
Friedreich’s ataxia, the most common hereditary ataxia among white people, is caused by a trinucleotide GAA expansion in the X25 gene. Friedreich’s ataxia is characterised by a variable phenotype which may also include hypertrophic cardiomyopathy and diabetes. In this study we report an influence of the mitochondrial DNA (mtDNA) haplogroups on the Friedreich’s ataxia phenotype. Patients belonging to the U mtDNA haplogroup class were found to have a delay of 5 years in the disease onset and a lower rate of cardiomyopathy.| File | Dimensione | Formato | |
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