Annual Report of Activities CNC 2008 - Center for Neuroscience and ...
Annual Report of Activities CNC 2008 - Center for Neuroscience and ...
Annual Report of Activities CNC 2008 - Center for Neuroscience and ...
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ServicesUnder the present contract, <strong>CNC</strong> Laboratório Associado in colaboration with AIBILI has the obligation toprovide specialized services to community.Biochemical <strong>and</strong> Molecular Biology Analysis:Coordinators: Catarina Oliveira, Isabel Carreira, Manuela Grazina.Team:Cândida MendesCarla VeríssimoJoão PratasMaria João SantosMarta SimõesTeresa ProençaMª Helena Garruncho131Mitochondrial Respiratory Chain (MRC)Oxygen consumption <strong>and</strong> double wavelength spectrophotometry evaluationThere were studied 61 subjects suspected <strong>of</strong> Mitochondrial Cytopathy, corresponding to the analysis <strong>of</strong> 74samples (some patients had 2 or more tissues analysed), including 44 lymphocytes isolated <strong>of</strong> peripheral blood,23 muscular biopsies, 6 liver <strong>and</strong> 1 heart samples. A MRC deficiency was detected in 20 patients.Mitochondrial DNA (mtDNA) studiesMolecular differential analysis <strong>of</strong> mitochondrial cytopathies, as a highthrouput screening, has been per<strong>for</strong>med bysequencing analysis <strong>of</strong> 11 mtDNA regions, covering a total <strong>of</strong> 424 mtDNA sequence variations that include 31confirmed pathogenic mutations associated to MRC associated diseases. We have continued to screen deletionsby flanking PCR <strong>of</strong> 6 hot‐spot regions.We have received 205 samples from 187 patients suspected <strong>of</strong> Mitochondrial Cytopathy, that represent anincrease <strong>of</strong> 73%, compared to year 2007, <strong>for</strong> DNA extraction, including blood (172), muscle (22), liver (7), heart(3) <strong>and</strong> skin (1) tissues, comprising a total <strong>of</strong> 1115 <strong>and</strong> 1386 PCR reactions <strong>for</strong> point mutations <strong>and</strong> deletionsanalysis, respectively. Deletions have been detected in 8 samples <strong>and</strong> a total <strong>of</strong> 481 (150 different) known mtDNAsequence variations, 4 rearrangements <strong>and</strong> 50 novel variants have been detected in 84/99 samples analysed <strong>of</strong>71/85 patients investigated. Further 97 PCR‐RFLP analyses were per<strong>for</strong>med to validate point mutations in 52samples <strong>of</strong> 43 patients.
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