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.
Dobson-Stone
Carol
C
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Velayos-Baeza
Antonio
A
Filippone
Lea A
LA
Westbury
Sarah
S
Storch
Alexander
A
Erdmann
Torsten
T
Wroe
Stephen J
SJ
Leenders
Klaus L
KL
Lang
Anthony E
AE
Dotti
Maria Teresa
MT
Federico
Antonio
A
Mohiddin
Saidi A
SA
Fananapazir
Lameh
L
Daniels
Geoff
G
Danek
Adrian
A
Monaco
Anthony P
AP
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