Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia)

Five Italian families with recurrence of cases of Charcot-Marie-Tooth disease (type Ia) were analysed using three closely linked DNA probes that detect polymorphisms in the region 17p11.2. The probe pVAW409R3 detected the presence of a duplication in all the affected subjects, but not in the subjects with normal electromyographic (EMG) findings. This observation confirms previous data indicating the association of the duplication with the disease, suggesting that, at least in populations of European origin, the duplication might be the molecular feature diagnostic of the pathological trait.     

Partial trisomy 4q: Two cases with a familial translocation t(4;18)(q27;q23)

Clinical and cytogenetic data of two related patients, both trisomic for the segment 4q27 to qter, are reported. Familial studies determined that the mothers of the two probands were carriers of the same balanced translocation between chromosomes 4 and 18. Altogether, two partial trisomies 4q, five balanced karyotypes, and one 45,X0 karyotype were found in the family. The 18 cases reported to date are reviewed with respect to the karyotype-phenotype correlation.     

Response of the European grapevine moth Lobesia botrana to somatosensory‐active volatiles emitted by the non‐host plant Perilla frutescens

The European grapevine moth Lobesia botrana Denis & Schiffermüller (Lepidoptera: Tortricidae) is a major pest on grapes worldwide. Attempts to develop control methods for this pest based on grape kairomones demonstrate limited success and studies indicate that a major limiting factor is overlap between synthetic kairomones and background odours in the vineyard. Behaviourally active compounds from non‐host plants may thus represent an effective alternative for monitoring and control methods. Extracts from food plants (i.e. from capsicum, garlic and peppermint, which elicit the so‐called somatosensory sensation) are traditionally used in agriculture for the control of pest insects. Among those plants, Perilla frutescens L. (Lamiales: Lamiaceae), native of Asia, contains compounds activating sensory ion channels in mammals, which are known to be involved in the perception of somatosensory compounds and are expressed in tortricid moth antennae. In the present study, in search of non‐host volatiles with potential application in pest control, essential oil metabolites isolated from P. frutescens are screened for biological activity on the olfactory system of L. botrana. The compounds (S)‐(?)‐perillaldehyde and isoegomaketone, which are released from different P. frutescens varieties, are identified by gas chromatography‐coupled electroantennographic detection. In a dual‐choice oviposition test, females show a preference for a combination of host odours and perillaldehyde, preferring this over a host‐plant odour bouquet alone. In Y‐tube olfactometer assays, virgin males show a higher level of activity in the presence of isoegomaketone, even if not significantly responsive to the compound.     

Polystyrene Embedding and Spreading of Sections at Lower Temperature

Embedments of histological material for the light microscope using a polystyrene solution (Frangioni and Borgioli Polystyrene Embedding Medium, Polysciences Inc., Catalog no. 15858) has several advantages (Frangioni and Borgioli 1979) including: ease of use, consistency of results, possibility of obtaining sections of any thickness using even a steel knife microtome, possibility of using all staining methods applicable to paraffin embedments, and superior quality of the mounts. Excellent preservation of morphology has been confirmed by pictures taken under the electron microscope of osmium fixed material embedded in polystyrene (Frangioni and Borgioli 1979).     

The effect of S-adenosyl-l-methionine on ischemia-induced disturbances of brain phospholipid in the gerbil

Brain ischemia was produced in gerbils (Meriones unguiculatus) by the bilateral ligation of the carotid arteries with reported procedures. Changes in the energy status of brain demonstrated that carotid ligation was effective. At different time intervals from ligation, groups of gerbils were given either saline of S-Adenosyl-L-methionine (SAMe) by the intraventricular (i.v.) route (1.6 mg/Kg body wt. twice, at each 10 min interval), or by the intraperitoneal (i.p.) administration (200 mg/Kg body wt.) or subcutaneously (s.c.) with 40 mg/Kg body wt, daily, for two weeks. Control animals, with and without SAMe, together with the ischemic groups, were decapitated directly into liquid nitrogen, 10 min after ligation. Brain neutral and polar lipid, together with free fatty acids, which were all labeled in vivo by the intraventricular injection of [1-14C]arachidonic acid 2 hr prior to ligation, were extracted, purified and separated by conventional procedures. SAMe when injected i.v. or i.p. noticeably corrected the changes in polar lipid by reversing the decrease of brain phosphatidylcholine and choline plasmalogen, as well as of their labeling, which was due to ischemia. Concurrently with this action, SAMe treatment (i.v. and i.p.) also provided to some extent to re-establish the normal level of labeling of ethanolamine lipids. When SAMe was given s.c., no effect was present. SAMe had no effect on the increase of free fatty acid and diglyceride due to ischemia. The prevention by SAMe of the changes of choline lipids suggests that a stimulation of the methyltransferase reaction may occur in the ischemic brain, due to increased substrate (SAMe) availability. This effect may be important for cell survival, since membrane phospholipid derangements alter the properties of the membrane.     

Generation of reactive oxygen species by beta amyloid fibrils and oligomers involves different intra/extracellular pathways

A neuropathological characteristic of Alzheimer’s disease is the extracellular accumulation of amyloid beta peptide (Aβ) in neuritic plaques. Recent evidences suggested that soluble Aβ oligomers are the predominant neurotoxic species for neurons. Thus, considerable attention has been paid to discriminate the cytotoxic pathways of Aβ pre-fibrillar aggregates and mature fibrils. We showed that the mechanisms by which Aβ oligomers and fibrils generated reactive oxygen species differ in terms of site of production and kinetics, suggesting the involvement of different intra/extracellular pathways.     

Increased expression of Interleukin-18 receptor in blood cells of subjects with Mild Cognitive Impairment and Alzheimer’s disease

Inflammation has been proposed as a leading force in neurodegeneration and Interleukin (IL)-18 is a pro-inflammatory cytokine which is suggested to be implicated in Alzheimer’s disease (AD). However, the meaning of the IL-18 participation in this disease is still unclear.Since IL-18 activity is mediated by its heterodimeric receptor complex IL-18Rα/β, we evaluated the presence of both IL-18R chains on peripheral blood cells of AD patients, as well as in individuals with Mild Cognitive Impairment (MCI), at increased risk to develop AD. More specifically, we compared the levels of CD14⁺ monocytes and CD3⁺ T-lymphocytes bearing IL-18Rα and β chains in the two groups of patients with those in healthy control subjects, both before and after in vitro cell treatment with lipopolysaccharide (LPS).While no differences in the levels of monocytes and T-lymphocytes bearing IL-18Rα chain were found among the three groups, either in untreated and LPS-treated conditions, the IL-18Rβ chain expression appeared differently regulated in MCI and AD patients, as compared to controls. In particular, the amount of IL-18Rβ-bearing monocytes was similar among the three groups at unstimulated conditions, while after LPS treatment it was increased in MCI vs. controls. A significant increase of IL-18Rβ-bearing T-lymphocytes was also observed in MCI and AD vs. controls, both in untreated and LPS-stimulated conditions.Our findings indicate that the expression of IL-18R complex on blood cells is perturbed in AD and even more markedly in its preclinical state of MCI, confirming that an increased peripheral activity of IL-18 may be involved in the early phase of AD pathophysiology.