Subject(s)
Adrenocorticotropic Hormone/analogs & derivatives , Brain Ischemia/metabolism , Cerebral Cortex/metabolism , Nerve Growth Factors/metabolism , Oligopeptides/administration & dosage , Peptide Fragments/administration & dosage , Proline/analogs & derivatives , Receptors, Nerve Growth Factor/metabolism , Adrenocorticotropic Hormone/administration & dosage , Animals , Cerebral Cortex/drug effects , Dose-Response Relationship, Drug , Gene Expression/drug effects , Male , Neuroprotective Agents/administration & dosage , Proline/administration & dosage , Rats , Rats, WistarSubject(s)
Adrenocorticotropic Hormone/analogs & derivatives , Hippocampus/drug effects , Hippocampus/metabolism , Peptide Fragments/pharmacology , Signal Transduction/drug effects , Signal Transduction/genetics , Adrenocorticotropic Hormone/pharmacology , Animals , Gene Expression Regulation/drug effects , Male , NF-kappa B/genetics , Rats , Rats, Wistar , Wnt Proteins/geneticsABSTRACT
Spinocerebellar ataxia type 1 (SCA1) is one form of autosomal dominant cerebellar ataxia (ADCA) caused by trinucleotide (CAG) repeat expansion within a mutant gene. We investigated 25 patients from 15 Russian ADCA families for SCA1 mutation and found an expanded CAG repeat in 5 families. Mutant chromosomes contained 41-51 CAG repeats (mean 46.1, SD 3.1), and normal chromosomes displayed 21-27 repeat units (mean 24.7, SD 1.3). Progressive cerebellar ataxia in our series of SCA1 patients was very commonly associated with dysarthria (in all cases) and pyramidal signs (in 10 of 11 cases). In three patients from one family we found optic atrophy, which has never been described before in genetically proven cases of SCA1. We observed no specific clinical features distinguishing SCA1 from non-SCA1 patients. In contrast to the high frequency of SCA1 in our series, we found no patients with Machado-Joseph disease, another form of ADCA caused by expanded CAG repeat.
Subject(s)
Spinocerebellar Degenerations/genetics , Adult , Alleles , Female , Humans , Male , RussiaABSTRACT
After the annealing of pre-mRNA at high Cot values, up to 20% of the material becomes resistant to the action of ribonuclease. This has been attributed to the presence of self-complementary sequences (scRNA) in the pre-mRNA. The most important properties of scRNA, which was isolated in preparative amounts, have been studied. The approximate dimensions of the complementary segments are 45-50 nucleotides. Hybridization experiments have shown that scRNA is transcribed from repeated segments of the genome. It may be postulated that the rapidly hybridizing pre-mRNA fraction consists mainly of self-complementary sequences.
