| Clinical chemistry techniques |
| Plasma and CSF
metabolites determination (lactate, pyruvate, alanine).
|
| Chromatographic techniques |
| Urinary organic
acids analysis.
|
| Coenzyme Q content
in muscle tissue.
|
| Biochemical
techniques |
| Enzymatic
activity of Pyruvate Dehydrogenase complex (PDHc)
|
| Enzymatic
activities of Krebs Cycle enzymes.
|
| Enzymatic
activities of respiratory chain complexes.
|
| ATP production
in cultured fibroblasts.
|
| Oxygen
consumption in isolated mitochondria or in intact cells
employing polarographic tecniques.
|
| Molecular
biology techniques |
|
MtDNA analysis:
|
| MERRF (nt8344-8356
mutations)
|
| MELAS (nt3243-3271
mutations)
|
| NARP/MILS (ntT8993G-T8993C
mutations)
|
| LHON (nt3460-11778-14484-14459
mutations)
|
| PEO (macrodeletions
/ multiple deletions)
|
| PEARSON (macrodeletions)
|
| In selected
cases:
|
| Search for rare
mtDNA mutations employing RFLP and DHPLC techniques,
and direct sequencing.
|
| Complete sequencing
of mtDNA.
|
| Search for mtDNA
depletions employing quantitative PCR.
|
|
Nuclear
DNA analysis:
|
| SURF1 (Leigh Syndrome)
|
| SCO1 (Infantile
Encephalopathy)
|
| SCO2 (Infantile
Encephalocardiomyopathy)
|
| COX10 (Infantile
Encephalopathy)
|
| COX15 (Cardiomyopathy)
|
| ANT1 (Familiar
PEO)
|
| Twinkle (Familiar
PEO)
|
| POLG1 (Progressive external ophtalmoplegia, Alpes syndrome)
|
| BCS1 (Infantile
Encephalonephropathy)
|
| TK2 (Mitochondrial DNA-depletion syndrome, myopathy)
|
| DGUOK (Mitochondrial DNA-depletion syndrome, hepatocerebral form)
|
| MPV17 (Mitochondrial DNA-depletion syndrome, hepatocerebral form)
|
| TP (Mitochondrial neurogastrointestinal encephalopathy)
|
| ETHE1 (Ethyl malonic encephalopathy)
|
| ATP12 (Lactic acidosis with reduced mitochondrial ATPase activity)
|
| OPA1 (Autosomal
dominant optic atrophy)
|
| OPA3 (Autosomal
dominant optic atrophy)
|
| GJB2 - connexin 26 (Neurosensorial deafness)
|
| GJB6 - connexin 30 (Neurosensorial dehypomyelinating)
|
| GJA12 - connexin 47 (Leukodystrophy PMLD)
|
| Genes encoding
for respiratory chain complexes subunits
|
| E1a gene in Pyruvate
Dehydrogenase complex deficiency
|
| E1b gene in Pyruvate
Dehydrogenase complex deficiency
|
| PDX gene in Pyruvate
Dehydrogenase complex deficiency
|
