The authors describe mitochondrial studies in a 6-year-old patient with a seizure disorder that can be seen in myoclonic epilepsy and ragged red fibers. Using a recently developed noninvasive approach, analysis of buccal mitochondrial enzyme function revealed severe respiratory complex I and IV deficiencies in the patient. In addition, analysis of buccal mitochondrial DNA showed significant amounts of the common 5 kb and 7.4 kb mitochondrial DNA deletions, also detectable in blood. This study suggests that a buccal swab approach can be used to informatively examine mitochondrial dysfunction in children with seizures and may be applicable to screening mitochondrial disease with other clinical presentations.
BlumenthalDTShanskeSSchochetSS. Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions. Neurology. 1998;50:524–525.
2.
SantorelliFMBarmadaMAPonsR. Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. Neurology. 1996;47:1320–1323.
3.
CamposYGarcia-SilvaTBarrionuevoCR. Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, stroke-like episodes (MELAS) and Fanconi’s syndrome. Pediatr Neurol. 1995;13:69–72.
KhuranaDSSalganicoffLMelvinJJ. Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies. Neuropediatrics. 2008;39:8–13.
6.
TabakuMLegiusERobberechtW. A novel 7.4 kb mitochondrial DNA deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation. Genet Couns. 1999;10:285–293.
7.
FilianoJJGoldenthalMJRhodesCH. Mitochondrial dysfunction dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome. J Child Neurol. 2002;17:435–439.
8.
WillisJHCapaldiRAHuigslootM. Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays. Biochim Biophys Acta. 2009;1787:533–538.
9.
EzughaHGoldenthalMJValenciaI. 5q14.3 deletion manifesting as mitochondrial disease and autism: case report. J Child Neurol. 2010;25:1232–1235.
10.
DeutschECSantaniABPerlmanSL. A rapid, noninvasive immunoassay for frataxin: utility in assessment of Fredreich ataxia. Mol Genet Metab. 2010;101:238–245.
11.
Marin-GarciaJGoldenthalMJPierpontM. Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy. Cardiovasc Res. 1996;31:306–313.
12.
WallaceDCZhengXXLottMT. Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological and biochemical characterization of a mitochondrial DNA disease. Cell. 1988;55:601–610.
13.
HiranoMDiMauroSClinical features of mitochondrial myopathies and encephalomyopathies. In: LaneRJM (Ed.), Handbook of Muscle Disease.1996;Vol 1:New York, NY: Marcel Dekker Inc, 479–504.
14.
GoldenthalMJKuruvillaTSalganicoffL. Evaluation of mitochondrial defects in children. Abstract of the 39th National Meeting of the Child Neurology Society; October 13–16, 2010; Providence, RI
15.
CanafogliaLFrancheschettiSAntozziC. Epileptic phenotypes associated with mitochondrial disorders. Neurology. 2001;22:1340–1346.
16.
El SabbaghSLebreASBahi-BuissonN. Epileptic phenotypes in children with respiratory chain disorders. Epilepsia. 2010;51:1225–1235.
17.
KudinAPZsurkaGElgerCEKunzWS.Mitochondrial involvement in temporal lobe epilepsy. Exp Neurol. 2009;218:326–332.
18.
LeeYMKangHCLeeJS. Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions. Epilepsia. 2008;49:685–690.
19.
WaldbaumSPatelM.Mitochondria, oxidative stress and temporal lobe epilepsy. Epilepsy Res. 2010;88:23–45.
20.
ZsurkaGKunzWS.Mitochondrial dysfunction in neurological disorders with epileptic phenotypes. J Bioenerg Biomembr. 2010;42:443–448.
21.
BergerISegalIShmueliDSaadaA.The effect of antiepileptic drugs on mitochondrial activity: a pilot study. J Child Neurol. 2010;25:541–545.
22.
NarbonneHPerucca-LostanlenDDesnuelleC. Searching for A3243G mitochondrial DNA mutation in buccal mucosa in order to improve the screening of patients with mitochondrial diabetes. Eur J Endocrinol. 2001;145:541–542.
23.
UusimaaJMoilanenJSVainionpääL. Prevalence, segregation and phenotype of the mitochondrial DNA 3243A>G mutation in children. Ann Neurol. 2007;62:278–287.
24.
RemesAMMajamaa-VolttiKKärppäM. Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Neurology. 2005;64:976–981.
25.
LacbawanFTifftCJLubanNL. Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearsons syndrome. Am J Med Genet. 2000;95:266–268.
26.
Mkaouar-RebaiEChamkhaIKammounT. A case of Kearns-Sayre syndrome with two novel deletions (9.76 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles. Mitochondrion. 2010;10:449–455.
