#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Myoclonic Epilepsy and Deafness in Siblings with the 7512T>C Mutation in the Mitochondrial Encoded tRNASer(UCN) Gene – Case Reports


Authors: P. Ješina 1;  K. Vinšová 1;  O. Brantová 1;  M. Tesařová 1;  Z. Hájková 1;  H. Hansíková 1;  L. Wenchich 1;  T. Honzík 1;  M. Magner 1;  J. Zámečník 2;  P. Ryška 3;  J. Zeman 1
Authors‘ workplace: Klinika dětského a dorostového lékařství UK 1. LF a VFN v Praze 1;  Ústav patologie a molekulární medicíny UK 2. LF a FN v Motole, Praha 2;  Radiologická klinika LF UK a FN Hradec Králové 3
Published in: Cesk Slov Neurol N 2010; 73/106(1): 68-72
Category: Case Report

Overview

Mitochondrial diseases are a very heterogeneous group of disorders affecting the nervous system, heart and skeletal muscle. The mutations are situated in nuclear DNA with Mendelian heredity and in mitochondrial DNA with maternal-type heredity. We describe a natural clinical course, the results of biochemical and molecular genetic measurements from two siblings with mitochondrial disorders due to mutation 7512T>C in the gene for mitochondrial tRNA for serine. The mutation is associated with myoclonic epilepsy, deafness, ataxia, calcification in the basal ganglia and decreased cytochrome c oxidase activity. The data should prove helpful in the exact diagnosis of patients with this phenotype.

Key words:
mitochondrial disease – myoclonic epilepsy – deafness – calcification in basal ganglia – cytochrom c oxidase deficiency – transfer RNA


Sources

1. DiMauro S. Mitochondrial medicine. Biochim Biophys Acta 2004; 1659(2–3): 107–114.

2. Schoffner JM, Lott MT, Lezza AMS, Siebel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 1990; 61(6): 931–937.

3. Toompuu M, Levinger LL, Nadal A, Gomez J, Jacobs HT. The 7472insC mtDNA mutation impairs 5’ and 3’ processing of tRNASer(UCN). Biochem Biophys Res Commun 2004; 322 (3): 803–813.

4. Nakanuta M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H et al. A novel point mutation in the mitochondrial tRNASer(UCN) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Commun 1995; 214(1): 86–93.

5. Chomyn A, Enriguez JA, Micol V, Fernandez‑Silva P,Attardi G. The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‑like episode syndrome‑associated human mitochondrial tRNALeu(UCN) mutation cause aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J Biol Chem 2000; 275(25): 19198–19209.

6. Guan MX, Enriguez JA, Fischer-Ghodsian N, Puranam R, Lin CP, Marion MA et al. The deafness‑associated mTDNA 7445 mutation, which affects tRNASer(UCN) precursor processing, has long‑range effects on NADH dehydrogenase ND6 subunit gene expression. Mol Cell Biol 1998; 18(10): 5668–5879.

7. Goto YI, Nonaka I, Horai S. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalopathies. Nature 1990; 348(6302): 651–653.

8. Jacobs HT, Hutchin TP, Käppi T, Gillies G, Minkkinen K, Walker J et al. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 2005; 13(1): 26–33.

9. Kokotas H, Petersen MB, Willems PJ. Mitochondrial deafness. Clin Genet 2007; 71(5): 379–391.

10. Muñoz A, Mates F, Simon R, Garcia‑Silva MT, Cabello S, Arenas J. Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients. Neuroradiology 1999; 41(12): 920–928.

Labels
Paediatric neurology Neurosurgery Neurology

Article was published in

Czech and Slovak Neurology and Neurosurgery

Issue 1

2010 Issue 1

Most read in this issue
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#