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1

Inborn errors of metabolism in the carbohydrate - deficient glycoprotein syndrome

100%

Zwierz K., Midro A. T.

Postępy Higieny i Medycyny Doświadczalnej

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1997

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vol. 51

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issue 2

205-226

EN

The carbohydrate-deficient glycoprotein syndromes are multisystemic inherited diseases with severe nervous system involvement. There is indirect evidence for deficiency of phosphomannomutase in type I and direct evidence for a deficiency of N-acetylglucosaminyltransferase II in type II. The disease is characterized by carbohydrate deficiences of a number glycoproteins, including serum sialotransferrins.

2

Genetic background of Rett syndrome

100%

Midro A. T., Panasiuk B.

Postępy Higieny i Medycyny Doświadczalnej

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1997

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vol. 51

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issue 4

399-419

EN

Current knowledge concerning the genetic background of Rett syndrome (RS) is reviewed. RS is a progressive neurological disorder causing severe mental retardation which appears to be limited to the female sex. The genetic defect responsible for the illness is not known and several different causative mechanisms i.e. X-linked dominant mutation, the two step mutation theory, mitochondrial DNA mutation, gonadal mosaicism, alternation in the X inactivation process, uniparental disomy of the X chromosome are reviewed.

3

Gene therapy perspective in cystic fibrosis

81%

Midro A. T., Kulczycki L. L., Sledziewski A.

Postępy Higieny i Medycyny Doświadczalnej

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1993

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vol. 47

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issue 4

221-230

EN

(CF) is a frequent autosomal recessive . The isolation of the gene at the CF locus assigned to the long arm of chromosome 7 band q 31 and defining description of its protein named CFTR (cystic fibrosis transmembrane conductance regulator) promoted understanding the basic biochemical defect. Brief review of relevant literature demonstrates that glycoprotein CFTR is a chloride channel and is activated by a combination of phosphorylation by protein kinase a and binding of ATP. Most common mutation of gene, a deletion of the three nucleotides encoding phenylalanine (Delta F508) results in disturbance od chloride transport through membrane of epithelial cells involved in pathomechanism of CF. The way for in CF is open, however therapeutic progress is noted on both pharmacologic arena and on the gene cure front. Recombinant vectors utilizing the adenovirus system with high efficiency of CFTR gene transfer to airway epithelium demonstrated in a rat model look promising. The use of retroviruses for CFTR transfer is also advanced mode of somatic gene therapy. An alternative approach suggesting the use of germ line cells is prerequisite of the development of the preimplantation preconception genetic GF diagnosis. A number of safety and efficacy issues have to be adressed for approaches before human trials can be implemented.

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3 Postępy Higieny i Medycyny Doświadczalnej

2 1997

1 1993

3 Midro A. T.

1 Kulczycki L. L.

1 Panasiuk B.

1 Sledziewski A.

1 Zwierz K.

Inborn errors of metabolism in the carbohydrate - deficient glycoprotein syndrome

Genetic background of Rett syndrome

Gene therapy perspective in cystic fibrosis