Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In order to assess myocardial perfusion in patients with Friedreich's ataxia, we carried out dipyridamole-thallium imaging in 13 cardiologically asymptomatic patients (aged 16 to 39; mean age 24) with various degrees of left ventricular hypertrophy; all showed electrocardiographic ST and/or T wave abnormalities before scintigraphy. After dosing with dipyridamole-201 thallium, we found: a completely reversible perfusion defect in the apical and a partially reversible defect in the posterolateral wall of the left ventricle in 1 case; a partially reversible perfusion defect in the anterior and posterior walls of the left ventricle in 1 case; and a persistent anterolateral perfusion defect in 1 case. The remaining 10 patients showed no scintigraphic abnormalities. The fact that only 1 of our patients showed a completely reversible perfusion defect, possibly consistent with regional myocardial ischemia, suggests that ischemia does not play a major role in the pathogenesis of the cardiac involvement in Friedreich's ataxia.
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PMID:Myocardial perfusion in Friedreich's ataxia: assessment by dipyridamole thallium-201 imaging. 191 15

Mitochondrial oxidative damage contributes to a wide range of pathologies, including cardiovascular disorders and neurodegenerative diseases. Therefore, protecting mitochondria from oxidative damage should be an effective therapeutic strategy. However, conventional antioxidants have limited efficacy due to the difficulty of delivering them to mitochondria in situ. To overcome this problem, we developed mitochondria-targeted antioxidants, typified by MitoQ, which comprises a lipophilic triphenylphosphonium (TPP) cation covalently attached to a ubiquinol antioxidant. Driven by the large mitochondrial membrane potential, the TPP cation concentrates MitoQ several hundred-fold within mitochondria, selectively preventing mitochondrial oxidative damage. To test whether MitoQ was active in vivo, we chose a clinically relevant form of mitochondrial oxidative damage: cardiac ischemia-reperfusion injury. Feeding MitoQ to rats significantly decreased heart dysfunction, cell death, and mitochondrial damage after ischemia-reperfusion. This protection was due to the antioxidant activity of MitoQ within mitochondria, as an untargeted antioxidant was ineffective and accumulation of the TPP cation alone gave no protection. Therefore, targeting antioxidants to mitochondria in vivo is a promising new therapeutic strategy in the wide range of human diseases such as Parkinson's disease, diabetes, and Friedreich's ataxia where mitochondrial oxidative damage underlies the pathology.
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PMID:Targeting an antioxidant to mitochondria decreases cardiac ischemia-reperfusion injury. 1598 32