Evaluation of Gastrointestinal mtDNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Methods in Molecular Biology

Volumn 755, Issue , 2011, Pages 223-232

  Giordano, Carla ^a   d’Amati, Giulia ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

CPEO; Mitochondrial disease; mtDNA deletion; mtDNA depletion

Indexed keywords

MITOCHONDRIAL DNA; PROSTAGLANDIN SYNTHASE; SUCCINATE DEHYDROGENASE;

ARTICLE; CHEMISTRY; GASTROINTESTINAL TRACT; GENE DOSAGE; HUMAN; INTESTINE PSEUDOOBSTRUCTION; ISOLATION AND PURIFICATION; LASER; METABOLISM; METHODOLOGY; MICRODISSECTION; MITOCHONDRIAL ENCEPHALOMYOPATHY; PATHOLOGY; POLYMERASE CHAIN REACTION; SKELETAL MUSCLE; STAINING;

DNA, MITOCHONDRIAL; GASTROINTESTINAL TRACT; GENE DOSAGE; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; LASERS; MICRODISSECTION; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; POLYMERASE CHAIN REACTION; PROSTAGLANDIN-ENDOPEROXIDE SYNTHASES; STAINING AND LABELING; SUCCINATE DEHYDROGENASE;

EID: 79960951329     PISSN: 10643745     EISSN: 19406029     Source Type: Book Series    
DOI: 10.1007/978-1-61779-163-5_18     Document Type: Chapter

References (9)

1. Anderson, S., Bankier, A.T., Barrell, B.G., de Bruijn, M.H., Coulson, A.R., Drouin, J., et al. (1981) Sequence and organization of the human mitochondrial genome. Nature. 290, 457–465.
2. DiMauro, S., Schon, E.A. (2003) Mitochondrial respiratory-chain diseases. N Engl J Med. 348, 2656–2668.
3. Nishino, I., Spinazzola, A., Papadimitriou, A., Hammans, S., Steiner, I., Hahn, C.D., et al. (2000) Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol. 47, 792–800.
4. Spinazzola, A., Marti, R., Nishino, I., Andreu, A.L., Naini, A., Tadesse, S., et al. (2002). Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem. 277, 4128–4133.
5. Giordano, C., Sebastiani, M., Plazzi, G., Travaglini, C., Sale, P., Pinti, M., et al. (2006) Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. Gastroenterology. 130, 893–901.
6. Giordano, C., Sebastiani, M., De Giorgio, R., Travaglini, C., Tancredi, A., Valentino, M.L., et al. (2008) Gastrointestinal dysmotility in mitochondrial neuro-gastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. Am J Pathol. 173, 2120–29.
7. Cossarizza, A., Riva, A., Pinti, M., Ammannato, S., Fedeli, P., Mussini, C., et al. (2003) Increased mitochondrial DNA content in peripheral blood lymphocytes from HIV-infected patients with lipodystrophy. Antivir Ther. 8, 51–57.
8. Gilbert, M.T., Haselkorn, T., Bunce, M., Sanchez, J.J., Lucas, S.B., Jewell, L.D., et al. (2007) The isolation of nucleic acids from fixed, paraffin-embedded tissues—which methods are useful when? PLoS ONE. 2, p. e537.
9. He, L., Chinnery, P.F., Durham, S.E., Blakely, E.L., Wardell, T.M., Borthwick, G.M., et al. (2002). Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res. 30, e68.