Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.
The authors report mutation screening of the p150 subunit of dynactin (DCTN1) and the cytoplasmic dynein heavy chain (DNCHC1) genes in 250 patients with ALS and 150 unrelated control subjects. Heterozygous missense mutations of the DCTN1 gene were detected in one apparently sporadic case of ALS (T1249I), one individual with familial ALS (M571T), two patients with familial ALS, and two unaffected relatives in the same kindred (R785W). The allelic variants of the DCTN1 gene may represent a previously unknown genomic risk factor for ALS.
Department of Neurology, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany. christoph.muench@medizin.uni-ulm.de
C
C
Münch
R
R
Sedlmeier
T
T
Meyer
V
V
Homberg
A D
AD
Sperfeld
A
A
Kurt
J
J
Prudlo
G
G
Peraus
C O
CO
Hanemann
G
G
Stumm
A C
AC
Ludolph
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D000072159:Dynactin Complex; D004398:Dyneins / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D020180:Heteroduplex Analysis; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics* / Q000502:physiology; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D021122:Protein Subunits; D012307:Risk Factors
C000606360:DCTN1 protein, human; D000072159:Dynactin Complex; D008869:Microtubule-Associated Proteins; D021122:Protein Subunits; D004398:Dyneins