TY - JOUR
T1 - Major depression in adolescent children consecutively diagnosed with mitochondrial disorder
AU - Koene, S.
AU - Kozicz, T. L.
AU - Rodenburg, R. J.T.
AU - Verhaak, C. M.
AU - de Vries, M. C.
AU - Wortmann, S.
AU - van de Heuvel, L.
AU - Smeitink, J. A.M.
AU - Morava, E.
PY - 2009/4
Y1 - 2009/4
N2 - A higher incidence of major depression has been described in adults with a primary oxidative phosphorylation disease. Intriguingly however, not all patients carrying the same mutation develop symptoms of major depression, pointing out the significance of the interplay of genetic and non-genetic factors in the etiology. In a series of paediatric patients evaluated for mitochondrial dysfunction, out of 35 children with a biochemically and genetically confirmed mitochondrial disorder, we identified five cases presenting with major depression prior to the diagnosis. The patients were diagnosed respectively with mutations in MTTK, MTND1, POLG1, PDHA1 and the common 4977 bp mtDNA deletion. Besides cerebral lactic acidemia protein and glucose concentrations, immunoglobins, anti-gangliosides and neurotransmitters were normal. No significant difference could be confirmed in the disease progression or the quality of life, compared to the other, genetically confirmed mitochondrial patients. In three out of our five patients a significant stress life event was confirmed. We propose the abnormal central nervous system energy metabolism as the underlying cause of the mood disorder in our paediatric patients. Exploring the genetic etiology in children with mitochondrial dysfunction and depression is essential both for safe medication and adequate counselling.
AB - A higher incidence of major depression has been described in adults with a primary oxidative phosphorylation disease. Intriguingly however, not all patients carrying the same mutation develop symptoms of major depression, pointing out the significance of the interplay of genetic and non-genetic factors in the etiology. In a series of paediatric patients evaluated for mitochondrial dysfunction, out of 35 children with a biochemically and genetically confirmed mitochondrial disorder, we identified five cases presenting with major depression prior to the diagnosis. The patients were diagnosed respectively with mutations in MTTK, MTND1, POLG1, PDHA1 and the common 4977 bp mtDNA deletion. Besides cerebral lactic acidemia protein and glucose concentrations, immunoglobins, anti-gangliosides and neurotransmitters were normal. No significant difference could be confirmed in the disease progression or the quality of life, compared to the other, genetically confirmed mitochondrial patients. In three out of our five patients a significant stress life event was confirmed. We propose the abnormal central nervous system energy metabolism as the underlying cause of the mood disorder in our paediatric patients. Exploring the genetic etiology in children with mitochondrial dysfunction and depression is essential both for safe medication and adequate counselling.
KW - Depression
KW - Lactic acid
KW - Mitochondrial medicine
KW - Oxidative phosphorylation
KW - PDHC
KW - POLG
UR - http://www.scopus.com/inward/record.url?scp=59649114327&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=59649114327&partnerID=8YFLogxK
U2 - 10.1016/j.jad.2008.06.023
DO - 10.1016/j.jad.2008.06.023
M3 - Article
C2 - 18692904
AN - SCOPUS:59649114327
SN - 0165-0327
VL - 114
SP - 327
EP - 332
JO - Journal of Affective Disorders
JF - Journal of Affective Disorders
IS - 1-3
ER -