NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein

Journal of Medical Genetics

Volumn 46, Issue 1, 2009, Pages 64-67

  Lopez Gallardo E ^a,b,c   Solano, A ^a   Herrero Martin M D ^a,b,c   Martinez Romero I ^a,b,c   Castano Perez M D ^d   Andreu, A L ^b,e   Herrera, A ^f   Lopez Perez M J ^a,b,c   Ruiz Pesini, E ^a,b,c,g   Montoya, J ^a,b,c  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUD   (Spain)

^d HOSPITAL VIRGEN DE LOS LIRIOS   (Spain)

^e HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^f HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^g FUNDACIÓN ARAID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GLYCINE; MITOCHONDRIAL DNA; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE 6; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DNA SEQUENCE; GENE INSERTION; GENE MUTATION; HETEROPLASMY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NARP SYNDROME; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; ATAXIA; BASE SEQUENCE; BRAIN; DNA, MITOCHONDRIAL; HUMANS; MALE; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MOLECULAR SEQUENCE DATA; MUSCLE WEAKNESS; POINT MUTATION; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SYNDROME;

EID: 58549092271     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.060616     Document Type: Article

References (20)

1. Halt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-33.
2. Shoffner JM, Fernhoff PM, Krawiecki NS, Caplan DB, Holt PJ, Koontz DA, Takei Y, Newman NJ, Ortiz RG, Polak M, Ballinger SW, Lott MT, Wallace DC. Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology 1992;42:2168-74.
3. de Vries DD, van Engelen BG, Gabreels FJ, Ruitenbeek W, van Oost BA. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann Neurol 1993;34:410-2.
4. Sciacco M, Prelle A, D'Adda E, Lamperti C, Bordoni A, Rango M, Crimi M, Comi GP, Bresolin N, Moggio M. Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study. J Neurol 2003; 250:1498-500.
5. Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH. Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992;50:852-8.
6. Ruiz-Pesini E, Lopez-Gallardo E, Dahmani Y, Herrero MD, Solano A, Diez-Sanchez C, Lopez-Perez M, Montoya J. [Diseases of the human mitochondrial oxidative phosphorylation system]. Rev Neurol 2006;43:416-24.
7. Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ. Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. Neuropediatrics 2007;38:313-6.
8. Ganguly A, Rack MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci U S A 1993;90:10325-9.
9. Schagger H, von Jagow G. Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa. Anal Biochem 1987; 166:368-79.
10. Herrero-Martín M, Pineda M, Briones P, López-Gallardo E, Carreras M, Benac M, coate M, Vilaseca M, Artuch H, López-Pórez M, Ruiz-Pesini E, Montoya J. A new pathologic mitochondrial DNA mutation in the cytochrome oxicase subunit 1. Hum Mutat 2008;29:e112-22.
11. Moradi-Ameli M, Godinot C. Characterization of monoclonal antibodies against mitochondrial F1-ATPase. Proc Natl Acad Sci U S A 1983;80:6167-71.
12. Grandier-Vazeille X, Guerin M. Separation by blue native and colorless native polyacrylamide gel electrophoresis of the oxidative phosphorylation complexes of yeast milochondria solubilized by different detergents: specific staining of the different complexes. Anal Biochem 1996;242:248-54.
13. Mishmar D, Ruiz-Pesini E, Brandon M, Wallace DC. Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integration. Hum Mutat 2004;23:125-33.
14. De Vivo DC. The expanding clinical spectrum of mitochondrial diseases. Brain Dev 1993;15:1-22.
15. Carrozzo R, Wittig I, Santorelli FM, Bertini E, Hofmann S, Brandt U, Schagger H. Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders. Ann Neurol 2006;59:265-75.
16. John UP, Willson TA, Linnane AW, Nagley P. Biogenesis of mitochondria: DNA sequence analysis of mit- mutations in the mitochondrial oli2 gene coding for mitochondrial ATPase subunit 6 in Saccharomyces cerevisiae. Nucleic Acids Res 1986; 14:7437-51.
17. Rak M, Tetaud E, Godard F, Sagot I, Salin B, Duvezin-Caubet S, Slonimski PP, Rlytka J, di Rago JP. Yeast cells lacking the mitochondrial gene encoding the ATP synthase subunit 6 exhibit a selective loss of complex IV and unusual mitochondrial morphology. J Biol Chem 2007;282:10853-64.
18. Ono S, Sone N, Yoshida M, Suzuki T. ATP synthase that lacks FOa-subunit: isolation, properties, and indication of FOb2-subunits as an anchor rail of a rotating c-ring. J Biol Chem 2004; 279:33409-12.
19. Marotta R, Chin J, Guigley A, Katsabanis S, Kapsa R, Byrne E, Collins S. Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001. Intern Med J 2004;34:10-9.
20. Jonckheere A, Hogeveen M, Nijtmans L, van den Brand M, Janssen A, Diepstra H, van den Brandt F, van den Heuvel L, Hol F, Hofste T, Kapusta L, Dillmann U, Shamdeen M, Smeitink J, Rodenburg R. A novel mitochondrial ATP8 (MT-ATP8) gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. J Med Genet 200845:129-33.