Renato Scacchi

Apolipoprotein E polymorphism in Italy investigated in native plasma by a simple polyacrylamide gel isoelectric focusing technique. Comparison with frequency data of other European populations.

A new polyacrylamide gel isoelectric focusing (PAGIEF) technique has been developed that allows rapid and reliable identification of Apolipoprotein E (APOE) phenotypes directly from plasma or serum without any prior treatment.

Plasma levels of apolipoprotein E and genetic markers in elderly patients with Alzheimer's disease

Besides apolipoprotein E (APOE) polymorphism, whose association with Alzheimers disease (AD) has been confirmed in most of the numerous population samples studied, other markers have been investigated. In most cases the association firstly described was not confirmed in subsequent works. Since it is important to examine these associations in as many populations as possible, we investigated APOE, APOC1, APOC2, alpha-1 antichymotrypsin (ACT) and presenilin-1 (PS-1) polymorphisms in a series of elderly patients with late-onset sporadic AD from Northern Italy and in a sex and age-matched control group. We could not confirm the significantly higher frequency of the ACT*A allele among carriers of APOE e*4 allele described elsewhere, although a similar trend was observed. The APOC2 and the PS-1 distributions were similar between patients and controls. However, we observed a significant difference in the genotype and allele frequencies of APOE and APOC1: patients had higher e*4 and C1*2 allele frequencies. This finding confirms the important role for APOE in AD occurrence. In addition, APOC1 seems to be an interesting marker because, though in strict linkage disequilibrium with APOE, it seems to play an independent role in AD risk. In contrast to previously reported data, plasma apoE concentrations were similar in patients and in controls. An interaction between APOE and APOC1 polymorphisms and apoE levels was observed in patients: subjects carrying the APOE E3/E2 or the APOC1 2-2 genotype have higher apoE concentrations than those who do not.

DNA Polymorphisms of Apolipoprotein B and Angiotensin I-Converting Enzyme Genes and Relationships with Lipid Levels in Italian Patients with Vascular Dementia or Alzheimer’s Disease

The distribution of three DNA polymorphisms (XbaI, EcoRI, and I/D) of the apolipoprotein B (APOB) gene, and of the I/D polymorphism of the angiotensin I-converting enzyme (ACE) gene was investigated in 53 patients with vascular dementia, in 80 patients with late-onset sporadic Alzheimer’s disease, and in 153 age-matched control subjects. Furthermore, plasma total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides were measured in the three groups and the involvement of the genetic variation at APOB locus on lipid levels was determined. Major findings of this work are (1) no genotype or allele of the polymorphisms examined here seemed to be associated with vascular dementia or with Alzheimer’s disease, (2) total cholesterol and LDL cholesterol levels were lower in Alzheimer’s disease patients than in vascular dementia patients and in elderly controls, and (3) the dementia patients with APOB EcoRI R+R– genotype had higher total cholesterol and LDL cholesterol levels than R+R+ homozygotes.

Association of Estrogen Receptor α (ESR1) PvuII and XbaI Polymorphisms with Sporadic Alzheimer’s Disease and Their Effect on Apolipoprotein E Concentrations

Background: Many studies have shown that estrogen replacement therapy may improve cognitive function in women and reduce the risk of Alzheimer’s disease (AD). Because most of the estrogen neuroprotective effect is mediated by receptors, we studied the associations between estrogen receptor α (ESR1) polymorphisms (PvuII and XbaI) and AD, and their interactions with apolipoprotein E (APOE) polymorphism and plasma levels. Methods: ESR1 genotypes and APOE plasma concentrations were determined in a sample of AD patients and controls. Results: ESR1 PP and XX genotypes were associated with an increased risk for AD only in males (OR = 3.6, 95% CI = 1.2–10.9) and conferred a relevant additional risk of AD to subjects also carrying APOE e*4 allele (OR = 13.3, 95% CI = 1.7–103.6). Mean APOE concentrations were lower in AD patients; the lowest levels were observed in male patients carrying PP and/or XX genotypes (p = 0.006) and in patients carrying PP and/or XX genotypes together with the e*4 allele (p = 0.003). In AD women, ESR1 PP and XX genotypes were also associated with lower MMSE values (p = 0.0007). Conclusion: The present data suggest that the involvement of ESR1 polymorphisms in AD onset is mediated by the regulation of apoE expression. ESR1 polymorphisms are also associated with a faster cognitive decline in the women AD patients.

Effect of the breeding system on the genetic structure in threeCephalanthera spp. (Orchidaceae)

The genetic variation of seven enzymes for a total of nine loci was investigated in three species of terrestrial orchids of the genusCephalanthera:C. longifolia, C. rubra, andC. damasonium. These species are characterized by presenting different breeding types: outbreeding , outbreeding with facultative vegetative reproduction, and inbreeding, respectively. Electrophoretic evidence points to a difference in the behaviour of each of the three species which seems strictly related to the breeding type. On the basis of our resultsC. longifolia behaves as a normal outbreeder, whileC. rubra presents the influence of vegetative reproduction in some populations and not in others.C. damasonium shows a total lack of both among and within populations genetic variation, which is most probably due to the autogamic breeding type.

Allozyme variation among and within eleven Orchis species (fam. Orchidaceae), with special reference to hybridizing aptitude

AbstractThe electrophoretic variability of nine enzymatic loci was studied in 31 populations of eleven species of the genus Orchis (fam. Orchidaceae). This orchid group shows a higher degree of genetic variability (

Variability of AChE, BChE, and ChAT genes in the late-onset form of Alzheimer's disease and relationships with response to treatment with Donepezil and Rivastigmine.

\overline {He} = 0.149;{\text{ }}\overline P = 0.439

Different pattern of association of paraoxonase Gln192-->Arg polymorphism with sporadic late-onset Alzheimer's disease and coronary artery disease.

) than reported by Gottlieb (Progr. Phytochem. 7:1–46, 1981) for other outbreeding plant species (