Monday, November 14, 2011

MR Spectroscopy in Mitochondrial Diseases

Proton MR Spectroscopy of Mitochondrial Diseases: Analysis of Brain Metabolic Abnormalities and Their Possible Diagnostic Relevance

I've been trying to find medical papers on MRS in Mito.  This one seems to be quite useful.  Our doctor sent us a good one, but I have not been able to find it on-line.  I'd say enjoy reading, except, if you are interested in reading, it isn't likely because you enjoy the topic (at least this is the case for me...I wish I'd never heard of Spectroscopy, to be honest)!

A quote from the article:  "Mitochondrial diseases with respiratory chain dysfunction are a wide group of clinical disorders that result from mutations in mitochondrial or nucleus-encoded OXPHOS subunit genes. Skeletal muscles and brain are the most commonly affected tissues mainly because their energy production strongly relies on mitochondrial oxidative phosphorylation. However, other organs and tissues such as heart, liver, kidney, and endocrine glands may also be involved. Different syndromes have been described on the basis of the type of primary or nucleus-driven mitochondrial DNA (mtDNA) mutation, but in most cases the consequent biochemical defect is not related to a single clinical manifestation. Diagnosis is often a challenge, based on a multidisciplinary approach that uses clinical, biochemical, neuroradiologic, and genetic data (13)."

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