title: Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra.
abstract: Recently, an insertional mutation in the ferritin-L gene was reported in some patients with familial basal ganglia degeneration, which, however, could not be detected in another Parkinson's disease (PD) population. We investigated 186 PD patients, in whom an increased amount of iron of the substantia nigra (SN) was priorly identified by transcranial ultrasound, for mutations of the whole coding region of ferritin-L and ferritin-H by denaturing high-pressure liquid chromatography and subsequent sequencing. In the ferritin-L gene two silent mutations were detected. In the ferritin-H gene the sequence variation 161A-->G was found in one patient but none of the 186 controls. Although functional analysis will show, whether this sequence variation might be causative for single cases of PD, the results indicate that mutations in the ferritin genes are not a common cause for PD with increased levels of iron of the SN.
authors: Institute for Human Genetics, University of Tuebingen, Calwerstrasse 7, 72076 Tuebingen, Germany.
authors: Bettina
authors: B
authors: Felletschin
authors: Peter
authors: P
authors: Bauer
authors: Uwe
authors: U
authors: Walter
authors: Stephanie
authors: S
authors: Behnke
authors: Jörg
authors: J
authors: Spiegel
authors: Ilona
authors: I
authors: Csoti
authors: Ulrike
authors: U
authors: Sommer
authors: Björn
authors: B
authors: Zeiler
authors: Georg
authors: G
authors: Becker
authors: Olaf
authors: O
authors: Riess
authors: Daniela
authors: D
authors: Berg
mesh_terms: D000368:Aged; D005260:Female; D005293:Ferritins / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007501:Iron / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010300:Parkinson Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism; D018709:Statistics, Nonparametric; D013378:Substantia Nigra / Q000000981:diagnostic imaging* / Q000378:metabolism*; D014463:Ultrasonography
chemical_list: D005293:Ferritins; D007501:Iron