Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.
The authors report on a family with dominantly inherited progressive external ophthalmoplegia and a diagnostic and statistical manual (fourth revised edition) diagnosis of bipolar psychiatric disorder in several members. Skeletal muscle biopsy from the proposita showed decreased cytochrome c oxidase staining, several ragged-red fibers, and multiple mtDNA deletions. The authors identified a missense mutation (leucine 98-->proline) in the adenine nucleotide translocator 1 gene. The presence of bipolar affective disorder expands the phenotype of adenine nucleotide translocator 1 allelic variants.
Siciliano
G
G
Neurological Institute, University of Pisa, Pisa, Italy.
Tessa
A
A
Petrini
S
S
Mancuso
M
M
Bruno
C
C
Grieco
G S
GS
Malandrini
A
A
DeFlorio
L
L
Martini
B
B
Federico
A
A
Nappi
G
G
Santorelli
F M
FM
Murri
L
L
D033741:Adenine Nucleotide Translocator 1 / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D001706:Biopsy; D001714:Bipolar Disorder / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D015153:Blotting, Western; D003576:Electron Transport Complex IV / Q000145:classification / Q000378:metabolism; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007930:Leucine / Q000235:genetics; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D020125:Mutation, Missense; D009218:Myosins / Q000378:metabolism; D009886:Ophthalmoplegia / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D011392:Proline / Q000235:genetics
D033741:Adenine Nucleotide Translocator 1; D011392:Proline; D003576:Electron Transport Complex IV; D009218:Myosins; D007930:Leucine