Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family.
BACKGROUND
Psychiatric problems, including bipolar affective disorder (BD) and schizophrenia, are common in mitochondrial diseases (MD) and frequently precede the diagnosis of mitochondrial dysfunction. However, they are rarely the only persistent manifestation of a MD and they are usually associated with other neurological or non-neurological features.


METHODS
Here, we describe an Italian family with multiple deletions of mtDNA in muscle, in which BD, schizophrenia, and depression recurred over several generations in the absence of other major signs of mitochondrial dysfunction.


CONCLUSIONS
In patients with positive family history of psychiatric problems, the possibility of MD should be kept in mind, even in absence of other canonical features of mitochondrial encephalomyopathies.
Mancuso
Michelangelo
M
Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy. mmancuso@inwind.it
Ricci
Giulia
G
Choub
Anna
A
Filosto
Massimiliano
M
DiMauro
Salvatore
S
Davidzon
Guido
G
Tessa
Alessandra
A
Santorelli
Filippo M
FM
Murri
Luigi
L
Siciliano
Gabriele
G
D001706:Biopsy; D001714:Bipolar Disorder / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics*; D003865:Major Depressive Disorder / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000473:pathology; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012008:Recurrence; D012559:Schizophrenia / Q000175:diagnosis / Q000235:genetics*
D004272:DNA, Mitochondrial