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Biomedical subjects

K Mather

Publications and source records attributed to K Mather.

At least 19 recordsLinked to original sources
PubMed1991

Expression of heat shock protein epitopes in tubular aggregates.

Tubular aggregates may be found in a variety of conditions and have been associated with a wide range of chemical and ischemic insults. We report clinical and histological features in a case of myopathy with tubular aggregates. The structure of these tubular aggregates was examined using antibodies to cytoskeletal proteins and heat shock proteins. Epitopes of the 72 kD heat shock protein were expressed in the areas of abnormality in this case and in a case of hypokalemic periodic paralysis with tubular aggregates. Heat shock proteins have a role in the modulation of the tertiary structure of proteins and may be involved in the pathogenesis of tubular aggregates and other microtubular abnormalities in muscle.

Adult↗
PubMed1991

Purkinje cell toxicity of beta-aminopropionitrile in the rat.

Compounds causing neurolathyrism are putative aetiological agents in neurodegenerative disorders including amyotrophic lateral sclerosis. beta-Aminopropionitrile (BAPN) is one such compound. We have administered this lathyrogenic agent at a dose of 1 g/kg by the intraperitoneal route in experiments in adult Sprague-Dawley rats during a period of 10 weeks. The rats developed marked kyphoscoliosis, ataxia with paralysis and muscle wasting of the hind limbs. Vacuolation and loss of Purkinje cells developed, but no anterior horn cell degeneration was noted. Immunohistochemical studies of phosphorylated neurofilaments and the 72 kDa heat shock protein were normal and no intraneuronal ubiquitinated inclusions were seen. High-dose intraperitoneal BAPN in the rat causes Purkinje cell changes, but no other central nervous system abnormalities.

Aminopropionitrile↗
PubMed1991

Stress protein inclusions in cerebral vessels in dialysis encephalopathy.

Dialysis encephalopathy, a complication of long-term haemodialysis, is a syndrome characterized by progressive dementia, myoclonus, dysarthria and ataxia associated with high serum and brain levels of aluminium. Expression of heat-shock or stress proteins, including ubiquitin can be induced in cell culture experiments by aluminium. We report immunohistochemical studies of heat shock protein (HSP) expression in the frontal cortex of three patients with dialysis dementia. Immunolabelling with antibody to the 72 kD heat shock protein revealed punctate granules in most endothelial cells of cortical vessels in patients with dialysis encephalopathy. These granules, 1-5 microns in diameter, aggregated to form inclusions that resembled stress-granules, typically induced in plant or animal cell culture by repeated insult. These granules did not express epitopes of ubiquitin. They were rare in endothelial cells in the brains of subjects dying with other neurological disorders or of non-neurological causes. We suggest that these stress granules represent a toxic response of endothelial cells in the brain to aluminium.

Adolescent↗
PubMed1991

Heat shock protein expression in corpora amylacea in the central nervous system: clues to their origin.

Small bodies expressing epitopes of the 72 kD heat shock protein (HSP) have been identified in the brain and spinal cord in normal and neurologically abnormal individuals. These bodies resemble the 'pre-corpora amylacea' (pre-CA), thought to be the primary structure in the development of the mature body. Corpora amylacea are laminated hyaline bodies composed of polyglucosans. They are found in larger numbers with increasing age in the brain and spinal cord. Mature, histologically 'classical', corpora amylacea express epitopes of HSP chiefly at the periphery of the corpus, whilst smaller immature 'pre-corpora' stain intensely throughout the entire structure. A heat shock or stress response in neurons and glial cells may be part of the cellular reaction to accumulation of abnormal products.

Adolescent↗
PubMed1990

Microdissection: a novel method for the study of intracellular inclusion bodies.

The purification of many intracellular and extracellular inclusions is often difficult to achieve due to the low concentration of the abnormalities in the tissue under study, or due to the degradation of components during extraction. We describe the use of microdissection for the isolation of neurons and intraneuronal inclusion bodies. The resulting suspension may be used for biochemical, immunological or ultrastructural studies. The technique is applicable to the study of a wide range of cellular abnormalities.

Cytological Techniques↗
PubMed1990

Myopathy of internal anal sphincter with polyglucosan inclusions.

In two members of an affected family with a hereditary syndrome of proctalgia fugax and constipation, a hypertrophied internal anal sphincter was found with histological features suggesting a myopathy of this muscle. In these two patients, and in an unrelated patient with a similar clinical syndrome, smooth muscle fibres of the internal anal sphincter showed numerous vacuoles, many of which contained ovoid inclusion bodies. The structural features and histochemical reactions of the inclusion bodies were consistent with a polyglucosan composition. Histological examination of the internal anal sphincter may reveal smooth muscle abnormalities in functional bowel disorders.

Adult↗
PubMed1987

Consequences of stabilising selection for polygenic variation.

A number of earlier authors have investigated the consequences for fitness of gene differences affecting the expression of a primary character where stabilising selection is acting in favour of an optimal expression. Assuming that the mean expression must be at or close to the optimum, deviations from the mean have been taken as measures of the deviation from the optimum, and the conclusion reached that, random drift apart, stabilising selection must ultimately lead to fixation of the commoner allele. It is now shown that this approach is incorrect: in an illustrative example the mean cannot be taken as synonymous with the optimum except in the trivial case where they have precisely the same value. Where the mean departs from the optimum, even by sampling variation only, continuing selection for it is effectively self-propagating and directional away from the optimum. Deviation from the optimum itself must be used in investigating the consequences of stabilising selection. The model used here is based on the biometrical description of the effects of a gene difference on a quantitative character as used by Mather and Jinks (1982). This includes a parameter, h, which allows dominance of any magnitude in either direction to be taken into account, and is adapted for the present purpose by introducing an additional parameter, m, measuring the departure from the optimum of the mid-point, or mid-parent, which is used biometrically as the origin for measurement of the gene effects. Assuming random mating and the absence of epistasis in the effects on the primary character, it is shown that stabilising selection acting on a pair of alleles (A and a) can have any one of three possible outcomes depending on the relative values of the m and h which characterise the effects of the gene difference on the primary character, viz: (i) a stable equilibrium in the population where in respect of the primary character Aa is nearer to the optimum than both homozygotes; (ii) fixation of the fitter allele where Aa is intermediate between the homozygotes in its departure from the optimum; (iii) a theoretical unstable equilibrium leading to fixation of the commoner allele, where Aa departs further from the optimum than both homozygotes. Only outcome (i) can lead to the conservation of variation in the population. Preliminary consideration is also given to the interaction in effect on fitness of two gene pairs affecting the same character and segregating simultaneously in the population.(ABSTRACT TRUNCATED AT 400 WORDS)

Alleles↗
PubMed1977

Joint scaling tests.

It is shown that a joint scaling test developed by Tan (1974) is closely related to the widely used standard Cavalli joint scaling test (described by Mather and Jinks, 1971) which was not referred to in Tan's paper. With the numbers of individuals per generation observed in practice, the two tests give essentially similar results. The Cavalli procedure also provides estimates of genetical parameters and is more readily extended to a wider range of situations.

Genes, Dominant↗
PubMed1976

Genotype x environment interactions. IV. The effect of the background genotype.

Experimental evidence from sternopleural chaeta number and yield of offspring in Drosophila melanogaster bears out the expectation (Mather, 1975) that the value of the regression of g, measuring genotype X environment interaction, on e, measuring the overall effect of environmental change , depends on genes in which the contrasting genotypes are alike as well as on the genes in which they differ. With yield of offspring there is evidence of some genotypes reacting to the environmental changes in the opposite direction to others.

Chromosomes↗
PubMed1975

Genotype X environment interactions. II. Some genetical considerations.

An algebraic formulation, alternative to that of Mather and Jones (1958) and hierarchial rather than factorial in nauture, is presented for describing the differences among the phenotypes produced by a number of genotypes each grown in each of a number of environments. This formuationdoes not include terms representing statistical interactions between genotypes and environments: it depends instead on comparisons between the different genotypes in their variation over the relevant ranges of environemnts. The two-line case is considered ant eht condition established for linearity of the regress ion of genotype X enviroment interaction (g in Mather and Jones' formulation) on overall effect of the envirronment (e in Mather and Jones' formulation)...

Environment↗