T-cell receptor (TCR) delta gene repertoire, as assessed by V delta-J delta rearrangements, has been analyzed in nine multiple sclerosis (MS) cases and in 30 healthy individuals by seminested PCR technique. Among the V delta-J delta junctional diversities studied, the most striking result has been observed in V delta 5-J delta 1 rearrangement. The detection of repeated V delta 5-J delta 1 nucleotide sequences in all analyzed clones from seven out of nine patients studied proved the monoclonal nature of gamma delta T-cells with V delta 5-J delta 1 rearrangement. The clonal nature of this rearrangement proved by PAGE and sequencing analysis may suggest an antigen-driven expansion of gamma delta T cells and argues for a significant role of gamma delta T-cells with V delta 5-J delta 1 rearrangement in MS pathogenesis. However, it cannot be excluded that clonal expansion of these lymphocytes may represent secondary change to central nervous system damage.

Adult↗

PubMedDate not supplied

Lack of association between an intronic polymorphism in the presenilin-1 gene and sporadic late-onset Alzheimer disease in Polish patients.

The apolipoprotein E (APOE) gene has in many studies been identified as a susceptibility factor in Alzheimer's disease (AD). The APOE association is rather strong, but other not yet identified genetic factors are assumed to be involved in the pathogenesis of AD. Recently an association between an intronic polymorphism in presenilin-1 (PS-1) gene and late-onset AD was claimed. In order to confirm this observation we studied a sample of Polish patients with sporadic AD. However, our results did not confirm the existence of an association between the intronic polymorphism in the PS-1 gene and late-onset AD.

Age of Onset↗

PubMedDate not supplied

[Diagnostic value of regional cerebral blood flow in SPECT pattern in Alzheimer's disease].

Regional cerebral blood flow in SPECT pattern was estimated in 20 cases of Alzheimer disease. In all patients diffuse hypoperfusion was found evidencing a great diagnostic value of SPECT. A special significance has the study of regional cerebral blood flow in the differential diagnosis of Alzheimer disease, frontal lobe dementia and pseudodementia in major depression.

Aged↗

PubMedDate not supplied

[Mutation of presenilin ++ genes and their role in pathogenesis of Alzheimer's disease].

A new family of presenilin genes involved in the pathogenesis of early-onset autosomal dominant Alzheimer's disease (AD) has been identified recently. Mutations in presenilin-1 and presenilin-2 genes have a full penetration and lead to AD. The presenilins are transmembrane proteins localized mainly within endoplasmatic reticulum and Golgi systems. Their biological function remains unknown. It has been suggested that the presenilins may be important for intracellular processes of protein trafficking and processing. Presenilin mutations play a direct role in the beta-amyloid precursor protein metabolism and cause increased production of amyloidogenic A beta 42(43) peptide.

Adult↗