RESUMO
Amyotrophic lateral sclerosis (ALS) is a progressive fatal disorder, which results from the degeneration of motor neurons in the brain and spinal cord. Approximately 20% of the inherited autosomal dominant cases are due to mutations within the gene coding for Cu/Zn superoxide dismutase 1 (SOD1), a cytosolic homodimeric enzyme that catalyzes the dismutation of toxic superoxide anion. We investigated the presence of SOD1 gene mutations and activity alterations in two unrelated families of ALS patients from Elba, an island of central Italy. No mutation in SOD1 exon 1 to 5 and no activity alteration were observed in all members of the two analyzed ALS families (FALS). These data show an apparent heterogeneous distribution of ALS patients with SOD1 gene mutations among different populations and suggest that another genetic locus could be involved in the disease.
Assuntos
Esclerose Lateral Amiotrófica/genética , Mutação/genética , Superóxido Dismutase/genética , Análise Mutacional de DNA/estatística & dados numéricos , Éxons/genética , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Linhagem , Superóxido Dismutase-1RESUMO
We investigated the segregation of the copper chaperone for the superoxide dismutase (CCS) gene in two Italian families with amyotrophic lateral sclerosis lacking the mutations in superoxide dismutase 1 gene. We analyzed a total of 56 individuals; six people were affected. Diagnoses were made using the El Escorial criteria. The results of our study provide no evidence of a linkage between markers flanking the CCS gene and familial amyotrophic lateral sclerosis (FALS) in these FALS kindreds.
Assuntos
Esclerose Lateral Amiotrófica/genética , Ligação Genética/genética , Chaperonas Moleculares/genética , Superóxido Dismutase/genética , Adulto , Esclerose Lateral Amiotrófica/enzimologia , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Linhagem , Superóxido Dismutase-1RESUMO
The use of a DNA alkylating agent, which induces poly(ADP-ribose) formation, has been employed to study the incorporation of [adenine 14C]NAD into pea root meristem nuclei, which is a prerequisite for poly(ADP-ribose) synthesis. The incorporation of [adenine 14C]NAD is significantly reduced when the poly(ADP-ribose)polymerase inhibitors, 7-methylxanthine and 3-methoxybenzamide are present and this incorporation is augmented when the DNA alkylating agent methyl methanesulfonate is added. Such information supports the hypothesis that poly(ADP-ribose) may be involved in the cell cycle regulation of pea root meristem nuclei.