Wyniki wyszukiwania

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Diminished formation of transcription factor API in lymphocytes derived from subjects with neuronal ceroid lipofuscxnosis (NCL) and down syndromes

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Sikora E., Radziszewska E., Kmiec T., Maslinska D.

Acta Neurobiologiae Experimentalis

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1992

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tom 52

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nr 3

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The impaired transcription factor AP-1 DNA binding activity in lymphocytes derived from subjects with some symptoms of premature ageing

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Sikora E., Radziszewska E., Kmiec T., Maslinska D.

Acta Biochimica Polonica

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1993

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tom 40

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nr 2

The study of human disorders known as premature aging syndromes may provide insight into the mechanisms of cellular senescence. The main feature of cellular senescence in vitro is cessation of cell proliferation. Down syndrome (DS) and neuronal ceroid-lypofuscinosis (NCL) are clinically characterized by the premature onset of numerous features normally associated with human aging. Phytohemagglu- tinin stimulated lymphocytes derived from DS subjects showed a statistically significant diminished proliferation capacity in comparison with lymphocytes derived from NCL and healthy individuals. We demonstrated, by applying the electrophoretic mobility shift assay, slightly impaired AP-1 DNA binding activity in NCL lymphocytes and strong in DS ones. Our results showed that the same molecular mechanisms of proliferation cessation could exist in fibroblasts characterized by replicative senescence and in lymphocytes derived from individuals with premature aging syndromes (Down).

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Homozygote for mutation c.1204 plus 1G A of the ARSA gene presents with a late-infantile from of metachromatic leukodystrophy and rare MRI white matter lesion type

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Lugowska A., Szymanska K., Kmiec T., Tarczynska I., Czartoryska B., Tylki-Szymanska A., Jurkiewicz E.

Journal of Applied Genetics

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2005

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tom 46

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nr 3

337-339

The metachromatic leukodystrophy (MLD) - causing mutation c. 1204 + 1G > A damages an intron-exon splice site recognition sequence. This results in a complete loss of enzymatic activity of arylsulfatase A (ARSA) protein molecules. We have found a late-infantile type MLD-patient to be homozygous for this mutation, which was not reported earlier, but is consistent with previous suggestions. Interestingly, the cerebral magnetic resonance imaging (MRI) in this patient displayed linear or punctuate structures radiating in the demyelinated white matter, which resembled the patterns described in Pelizaeus-Merzbacher disease. It should be emphasised that whenever a cerebral MRI demonstrates the 'tigroid' or 'leopard-skin' demyelination pattern not only Pelizaeus-Merzbacher disease, but also metachromatic leukodystrophy diagnosis should be considered; this suggests the necessity of ARSA activity estimations in patients with such specific MRI patterns.

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SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome

76%

Piekutowska-Abramczuk D., Popowska E., Pronicka E., Karczmarewicz E., Pronicki M., Kmiec T., Krajewska-Walasek M.

Journal of Applied Genetics

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2001

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tom 42

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nr 1

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MRI-monitored cord blood-derived cell transplantation to the ventricular system of child with global cerebral ischemia-a case report

51%

Janowski M., Kmiec T., Jurkiewicz E., Kropiwnicki T., Habich A., Kotulska K., Jelonek E., Sarnowska A., Litwin M., Boruczkowski D., Lukomska B., Walecki J., Roszkowski M., Jozwiak S., Domanska-Janik K.

Acta Neurobiologiae Experimentalis

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2011

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tom 71

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nr 1

Introduction: Neurological disorders are the most common cause of serious disability and have a major impact on financial healthrelated burden to society. Most of them are definitely associated with cell death: sudden or chronic. Conventional treatment methods yield disappointing results. Thus the discoveries in stem cell biology have fueled the interest in cell-based therapeutical approach. Based on experimental data cord blood has been proposed as a novel, autologous cell source for pediatric population. Non-invasive monitoring of cell fate following transplantation has been recently recommended as a basis for rational stem cell therapy. Subject: One year old child experienced devastating, cardiac arrest-induced cerebral ischemia. Despite a broad rehabilitation program diagnose of vegetative state has been established three months later. After next three months of continued rehabilitation no noticeable improvement has also been found and the child has been included into study. The protocol has been approved by the ethical commission of The Children’s Memorial Health Institute in Warsaw, Poland. Then the child’s own cord blood cells have been neurally-converted over 10 days in culture within GMP facility. Prior to transplantation cells were labeled with iron oxide (SPIO) for MR imaging. For scaling sensitivity of MR signal different concentrations of SPIO-labeled cells were scanned in the phantom. Then patient received monthly 3 subsequent cell infusions (1.2 x 107 cells each) to lateral ventricles. The follow up continued up to 6 months and included both clinical assessment and MR examinations. Results: High efficiency of neural cell conversion and SPIO labeling as well as no cytotoxicity were observed. The employed method of cell transplantation was found to be efficient to deliver cells to CNS as confirmed by MR imaging. Gradual decrease of SPIO signal intensity was observed over the period of follow up. No adverse events or abnormal reaction to cell implantation was detected. The follow up revealed mild functional improvement - decreased nystagmus, spasticity and the number of epileptic seizures. Moreover, the features of the child contact with parents has appeared, thus vegetative state can not be diagnosed any more. Conclusions: This report indicates that transplantation of autologous, neurally-committed cord blood-derived cells to the ventricular system of child is safe, feasible and able to result with mild functional improvement. Additionally cell-related MRI signal can be monitored for more than 4 months in transplanted brain hemisphere. Supported by MSHE grants no 0141/B/P01/2008/35 and 0142/B/ P01/2008/35.

Ograniczanie wyników

Diminished formation of transcription factor API in lymphocytes derived from subjects with neuronal ceroid lipofuscxnosis (NCL) and down syndromes

The impaired transcription factor AP-1 DNA binding activity in lymphocytes derived from subjects with some symptoms of premature ageing

Homozygote for mutation c.1204 plus 1G A of the ARSA gene presents with a late-infantile from of metachromatic leukodystrophy and rare MRI white matter lesion type

SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome

MRI-monitored cord blood-derived cell transplantation to the ventricular system of child with global cerebral ischemia-a case report