Chorein detection for the diagnosis of chorea-acanthocytosis.
Chorea-acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all human cells analyzed. However, chorein expression was absent or noticeably reduced in ChAc patient cells, but not McLeod syndrome and Huntington's disease cells. This suggests that loss of chorein expression is a diagnostic feature of ChAc.
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Carol
C
Dobson-Stone
Antonio
A
Velayos-Baeza
Lea A
LA
Filippone
Sarah
S
Westbury
Alexander
A
Storch
Torsten
T
Erdmann
Stephen J
SJ
Wroe
Klaus L
KL
Leenders
Anthony E
AE
Lang
Maria Teresa
MT
Dotti
Antonio
A
Federico
Saidi A
SA
Mohiddin
Lameh
L
Fananapazir
Geoff
G
Daniels
Adrian
A
Danek
Anthony P
AP
Monaco
D000050:Acanthocytes / Q000473:pathology*; D000326:Adrenoleukodystrophy / Q000235:genetics / Q000378:metabolism; D015153:Blotting, Western / Q000379:methods; D002460:Cell Line; D002819:Chorea / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D004910:Erythrocyte Membrane / Q000378:metabolism; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D008297:Male; D009154:Mutation; D011506:Proteins / Q000032:analysis* / Q000235:genetics; D033921:Vesicular Transport Proteins
D011506:Proteins; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins