Open AccessPatterns of Mitochondrial DNA Damage in Blood and Brain Tissues of a Transgenic Mouse Model of Machado-Joseph Disease
Author(s) -
Nadiya Kazachkova,
Mafalda Raposo,
Rafaél Montiel,
Teresa Cymbron,
Conceição Bettencourt,
Anabela SilvaFernandes,
Sara Silva,
Patrı́cia Maciel,
Manuela Lima
Publication year - 2012
Publication title -
neurodegenerative diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.98
H-Index - 57
eISSN - 1660-2862
pISSN - 1660-2854
DOI - 10.1159/000339207
Subject(s) - genetically modified mouse , biology , transgene , mitochondrial dna , microbiology and biotechnology , spinocerebellar ataxia , hippocampus , medicine , pathology , endocrinology , genetics , gene
Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia caused by a CAG tract expansions in the ATXN3 gene. Patterns of mitochondrial damage associated with pathological findings of brain tissues could provide molecular biomarkers of this disorder.