Analysis of autosomal dominant spinocerebellar ataxia type 1 in an extended family of central India.

BACKGROUND: Spinocerebeller ataxia type 1 (SCA1) is a specific type of ataxia among a group of inherited diseases of the central nervous system. In SCA1, genetic defects lead to impairment of specific nerve fibers carrying messages to and from the brain, resulting in the degeneration of the cerebellum, the coordination center of the brain. We investigated 24 members of an extended family in Gwalior city, India, some of which were earlier clinically diagnosed to be suffering from yet unconfirmed type of SCA neurodegenerative disorder. MATERIALS AND METHODS: All the family members from each age group were screened clinically and the characteristics of those resembling with ataxia were recorded for diagnosis by MRI. The confirmed patients of the family were genetically tested by PCR based molecular testing to identify the type of SCA (i.e., SCA 1, 2, 3, 4, 6 or 7). Family tree of the disease inheritance was constructed by pedigree based method. RESULT AND CONCLUSION: We found the clinical (symptoms and MRI) and genetic (Pedigree and PCR) results to be correlated. The PCR result revealed the disease to be of SCA 1 type being inherited in the family.

In vitro induction of 60-kDa and 70-kDa heat shock proteins by endosulphan and monocrotophos in sheep blowfly Lucilia cuprina.

The effect of two most commonly used and highly toxic organic pesticides, endosulphan (organochlorine) and monocrotophos (organophosphate), was studied in a blowfly, Lucilia cuprina, to test whether these pesticides induce the stress response and, if so, whether the intensity of the response, in terms of induction of heat shock proteins (HSPs), HSP60 and HSP70 in particular, is pesticide concentration dependent. The in vitro exposure of larval and adult tissues to varying concentrations of these pesticides (endosulphan: 1.0-4.0 ppm for larva and 0.05-0.50 ppm for adult; monocrotophos: 0.0005-0.0050 ppm for larva and 0.0001-0.0010 ppm for adult) revealed that both compounds were able to induce the expression of HSP60 and HSP70 proteins. Western blot analysis of these HSPs indicated that the induction of expression was tissue-specific. The trypan blue staining of pesticide-exposed tissues demonstrated monocrotophos to exert more severe effect than endosulphan, as the former compound induced both HSP60 and HSP70 significantly at a much lower concentration than that of the later. The pattern of expression of these HSPs, in general, appeared in direct correlation with the pesticide concentration. Gut tissues were found relatively more sensitive to pesticide toxicity than other tissues, as revealed by trypan blue staining, and hence, they might serve as primary targets for early detection of pesticide toxicity. The results indicated that either of these HSPs or both could serve as a potential biomarker toward assessment and monitoring of toxicity induced by these pesticides.

Developmental and hyperthermia-induced expression of the heat shock proteins HSP60 and HSP70 in tissues of the housefly Musca domestica: an in vitro study

The expression pattern of two major chaperones, the heat shock proteins (HSPs) HSP60 and HSP70 was studied in vitro in tissues of the housefly Musca domestica during larval and adult stages of development to identify their immunological relatives and understand their functional significance in normal cellular activities and during thermal stress. Fluorographs of labeled polypeptides and western blots demonstrated that both HSPs are expressed constitutively and heat-induced in all the larval and adult cell types examined. The pattern of whole tissue immunocytochemical staining using anti-HSP60 and anti-HSP70 antibodies corresponded well with the observations from western blots or fluorographs. In developing oocytes, both constitutive and heat inducible expression of HSP60 were regulated in an oocyte stage-specific manner. In unstressed ovaries the expression of these proteins was less pronounced in early stage oocytes (1st - 8th) than at later stages (9th and onward). The heat shock, however, induced both HSP70 and HSP60 to a significantly high level in early stage oocytes (1st-8th) as compared to their respective controls. Our findings indicate the involvement of the HSP60 and HSP70 proteins in the development, growth and differentiation of both somatic and germ line tissues. Furthermore, the enhanced co-expression of HSP70 and HSP60 upon heat shock in various larval and adult cell types suggests the possible role of HSP60 in thermoprotection.