Practical problems in detecting abnormal mitochondrial function and genomes

Human Reproduction

Volumn 15, Issue SUPPL. 2, 2000, Pages 57-67

  Thorburn, D R ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Diagnosis; Mitochondrial disease; Mitochondrial DNA; Mitochondrial function; Respiratory chain

Indexed keywords

ANESTHETIC AGENT; ANTIVIRUS AGENT; CITRATE SYNTHASE; MITOCHONDRIAL DNA; POISON;

BIOPSY TECHNIQUE; CONFERENCE PAPER; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG MECHANISM; ENZYME ACTIVITY; ENZYME ANALYSIS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; IN VITRO STUDY; IN VIVO STUDY; INBORN ERROR OF METABOLISM; INHERITANCE; LIVER DISEASE; METABOLIC PARAMETERS; MITOCHONDRIAL RESPIRATION; MORPHOLOGY; NEUROMUSCULAR DISEASE; RESPIRATORY CHAIN; TISSUE SPECIFICITY;

EID: 0033646445     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/15.suppl_2.57     Document Type: Conference Paper

References (41)

1. Mitochondrial DNA depletion in patients with spinal muscular atrophy
2. A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion
3. Skewed segregation of the mtDNA nt8993 (T→G) mutation in human oocytes
4. Mitochondrial function in muscle from elderly athletes
5. Clinical features, investigation, and management of patients with defects of mitochondrial DNA
6. Morphological correlates of mitochondrial dysfunction in children
7. Biochemical parameters for the diagnosis of mitochondrial respiratory chain deficiency in humans and their lack of age-related changes
8. Genetic defects causing mitochondrial respiratory chain disorders and disease
9. Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease
10. Mitochondria in neuromuscular disorders
11. Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes
12. Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy
13. Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
14. Ultrastructural identification of light microscopic giant mitochondria in alcoholic liver disease
15. Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON)
16. A false positive diagnosis for the common MELAS (A3243G) mutation caused by a novel variant in the ND1 gene of mtDNA
17. Respiratory chain complex I deficiency. An underdiagnosed energy generation disorder
18. Clinical and laboratory findings in referrals for mitochondrial DNA analysis
19. Myopathy with ragged red fibres following renal transplantation: Possible role of cyclosporin-induced hypomagnesaemia
20. Mitochondrial toxicity of antiviral drugs
21. Fialuridine and its metabolites inhibit DNA polymerase gamma at sites of multiple adjacent analog incorporation, decrease mtDNA abundance, and cause mitochondrial structural defects in cultured hepatoblasts
22. Mitochondrial DNA - All things bad?
23. Mitochondrial disease in superoxide dismutase 2 mutant mice
24. Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis - Is the transfer RNA (Leu(UUR)) gene an etiologic hot spot?
25. Ageing and mammalian mitochondrial genetics
26. Noninvasive diagnosis of the MELAS syndrome from blood DNA
27. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
28. Isolated mitochondria from frozen muscle have limited value in diagnostics
29. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
30. Maternal inheritance and the evaluation of oxidative phosphorylation diseases
31. Respiratory chain disorders in children: Can we establish consensus diagnostic criteria?
32. problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies
33. Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation
34. Respiratory chain encephalomyopathies: A diagnostic classification
35. Mitochondrial diseases in man and mouse
36. Ancient mtDNA sequences in the human nuclear genome: A potential source of errors in identifying pathogenic mutations
37. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle
38. A novel mtDNA variant that may give a false positive diagnosis for the T8993C mutation
39. Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies