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Biochemical tests

Glycogen metabolism and glycolisis:

• Phosphoglucomutase
• Phosphoglucoisomerase
• Aldolase
• Glyceraldheide-3-P isomerase
• Phosphoglyceratokinase
• Phosphoglyceratomutase
• Enolase
• Pyruvatokinase
• Lactate Dehydrogenase
• Phosphorylase
• Phosphorylase b kinase
• Phosfofructokinase
• Debranching
• Acid Maltase
• Glycogen concentration

Mitocondrial enzymes:

• Respiratory chain
• Succinate dehydrogenase
• NADH dehydrogenase
• DPNH cytochrome c oxidoreductase
• Succinate cytochrome c oxidoreductase
• Cytochrome c oxidase
• Citrate synthase

Beta-oxidation:

• PalmitoilCoA dehydrogenase
• OctanoilCoA dehydrogenase
• ButirrilCoA dehydrogenase
• Carnitine Palmitoil Transferase

Other enzymatic activities:

• Adenilate deaminase
• Glucose 6-Phosphate Dehydrogenase
• Galactose 1 P Urydil-Transferase
• Glutammate Dehydrogenase

Plasma metabolites:

• Lactate
• Total and free carnitine

Muscle proteins (Western blotting):

• Dystrophin (NH2, Rod domain, COOH)
• Caveolin 3
• Calpain 3
• Dysferlin
• Alpha-Sarcoglycan
• Beta-Sarcoglycan
• Gamma-.Sarcoglycan
• Delta-Sarcoglycan
• Telethonin
• Desmin
• Alpha-dystroglycan

Molecular genetics

Nuclear DNA

• Duchenne and Becker Muscular Dystrophy:
  Dystrophin gene (Chamberlain JS et al. Nucl Acid Res 16: 11141-56, 1990; Beggs AH et al. Hum Genet 86: 45-49, 1990): Deletion analysis.
• Familiar Amyotrophic Lateral Sclerosis:
  Cu-Zn Superoxide Dismutase (SOD1) (Yulug IG et al. Hum Mol Genet 4: 1101-1104, 1995): Coding sequence
• Spinal Muscular Atrophy, AR, Cr. 5.:
  Survival Motor Neuron gene (Van der Steege G et al. Lancet 345: 985-986, 1995): Screening for exon 7 and 8 deletion.
• Malignant Hyperthermia Syndrome:
  RYR1 Gene ( Manning BM et al Am J Hum Genet 62: 599-609, 1998.): Recurrent point mutations.
• Alzheimer Disease:
  Haplotype locus APO E (Hixson JE J Lipid Res 1990)
• Carnitine Palmitoil-Transferase:
  CPT 1 gene (Taroni F. et al. Nature Genet 4: 314-319, 1993): Coding sequence.
• Debranching enzyme deficiency:
  AGL gene (Lucchiari et al. Am J Med Genet, 2002): Coding sequence
• Mioadenilato Deaminase deficiency:
  MAD gene: common point mutation.
• COX negative Leigh Syndrome:
  Surf-1 (Tiranti et al. Am J Hum Gen 63: 1609-1621, 1998): Coding sequence
• Progressive External Ophthalmoplegia with multiple mtDNA deletions, Autosomal Dominant 1:
  ANT1 (Kaukonen et al. Science 2001): Coding sequence
• Progressive External Ophthalmoplegia with multiple mtDNA deletions, AutosomalRecessive and Autosomal Dominant 3: POLG (Van Goethem et al. 2002) Sequenza codificante.
• Parkinson Disease:
  Parkin (Autosomal Recessive Parkinson Disease, PARK 2)
  Synuclein-alpha (Autosomal Dominant Parkinson Disease)

Mitochondrial DNA

• Southern blot
• MELAS: A3243G mutation and tRNA LeuUUR sequence analysis
• MERRF: A8344G
• MERRF / MELAS: 8356 mutation
• Leber Hereditary Optic Neuropathy: G13708A, G3460A, G15812A, G15257A, T3394C, G7444A, G5244A T14484C, G14459A, T14596A mutations
• Neuropathy Ataxia Retinitis Pigmentosa / Leigh Syndrome: T8993C, T8993G and T9176C
• MiMyCa
• Whole mitochondrial genome sequence analysis.

Cell Culture

The activity of the Laboratory of Cell Cultures deals both with clinical-diagnostic and with research themes. Primary myoigenic and fibrogenic cell cultures are established from bioptic tissues of patients affected with neuromuscular and neurodegenerative disorders.