Mutations in mitochondrial DNA (mtDNA) can cause a wide range of well-characterised clinical disorders. However, the relationship between genotype and phenotype is not always straightforward. Mitochondria are predominantly involved in providing energy necessary for normal cell function and maintenance. For this reason high energy-requiring tissues are often affected such as heart, muscle and brain. MtDNA mutations have been found to increase with age in a variety of tissues. Mitochondrial dysfunction has also been observed in neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease (PD). We have recently shown that substantia nigra neurons from aged and PD patients have mtDNA deletions levels of ~50% (ref 1). Whether these mtDNA mutations have a role in the neurodegeneration observed in this brain region, or are just a secondary consequence of other factors is still to be established.
Life Sciences 2007 (2007) Proc Life Sciences, SA52
Research Symposium: MtDNA mutations in neurodegenerative disease
K. J. Krishnan1, A. K. Reeve1, C. M. Morris1, E. Jaros2, R. Perry2, R. N. Lightowlers1, D. M. Turnbull1
1. Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom. 2. Department of Neuropathology, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom.
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