ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. We now report the finding of seven missense mutations in 15 individuals, of whom four had familial ALS and 11 apparently 'sporadic' ALS. Our findings provide further evidence that variations in hypoxia-inducible genes have an important role in motor neuron degeneration.
Greenway
Matthew J
MJ
Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland. mattgreenway@rcsi.ie
Andersen
Peter M
PM
Russ
Carsten
C
Ennis
Sean
S
Cashman
Susan
S
Donaghy
Colette
C
Patterson
Victor
V
Swingler
Robert
R
Kieran
Dairin
D
Prehn
Jochen
J
Morrison
Karen E
KE
Green
Andrew
A
Acharya
K Ravi
KR
Brown
Robert H
RH
Hardiman
Orla
O
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008958:Models, Molecular; D020125:Mutation, Missense; D010375:Pedigree; D011487:Protein Conformation; D012259:Ribonuclease, Pancreatic / Q000737:chemistry / Q000235:genetics*
C046366:angiogenin; D012259:Ribonuclease, Pancreatic