Mitochondrial Disorder Testing

Mitochondrial Disorder Testing

- Initial testing in blood and urine when suspecting a mitochondrial dysfunction

- Genetic testing to confirm mitochondrial diseases (mtDNA and nuclear DNA)

We offer many different panels covering together 396 genes associated with mitochondrial disorders.

For additional information, please see some of the scientific publications by Dr. Michaela Jaksch below.

• Bauer MF, Gempel K, Hofmann S, Jaksch M, Philbrook C, Gerbitz KD. Mitochondrial disorders. A diagnostic challenge in clinical chemistry. Clin Chem Lab Med. 1999 Sep;37(9):855-76.

• Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R, Freisinger P, Sperl W. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet. 2007 Mar;80(3):478-84. Epub 2007 Jan 10.

• Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. Hum Mol Genet. 2003 Oct 15;12(20):2693-702. Epub 2003 Aug 19.

• Müller-Höcker J, Muntau A, Schäfer S, Jaksch M, Staudt F, Pongratz D, Taanman JW. Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis. Hum Pathol. 2002 Feb;33(2):247-53.

• Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M. Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. J Inherit Metab Dis. 2005;28(4):479-92.

• Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M. Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? J Inherit Metab Dis. 2004;27(1):67-79.

• Horváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BG, Pongratz D, Auer DP, Jaksch M. A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy. J Med Genet. 2003 Oct;40(10):752-7.

• Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmueller H. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet. 2001 Dec 15;10(26):3025-35.

• Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. J Med Genet. 2001 Oct;38(10):665-73.

• Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, Jaksch M. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. J Med Genet. 2000 Sep;37(9):669-73.

• Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Lill R, Prokisch H, Gerbitz KD, Mewes HW, Meitinger T. MITOP: database for mitochondria-related proteins, genes and diseases. Nucleic Acids Res. 1999 Jan 1;27(1):153-5.

• Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Müller-Höcker J, Jedele KB, Meitinger T, Gerbitz KD. A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. J Med Genet. 1998 Nov;35(11):895-900.

• Gerbitz KD, van den Ouweland JM, Maassen JA, Jaksch M. Mitochondrial diabetes mellitus: a review. Biochim Biophys Acta. 1995 May 24;1271(1):253-60.

• Gerbitz KD, Jaksch M. Mitochondrial DNA, aging and sudden infant death syndrome. Eur J Clin Chem Clin Biochem. 1994 Jun;32(6):487-8.