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A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies

100%

Moszyńska I., Kabzińska D., Sinkiewicz-Darol E., Kochański A.

issue 4

627-630

Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by a spectrum of phenotypes, from the classical HNPP course associated with intermittent nerve palsies to a neuropathy resembling Charcot-Marie-Tooth type 1 (CMT1) disease. The majority of HNPP cases are associated with submicroscopical deletions in the 17p11.2-p12 region containing the PMP22 gene, while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, we present a patient manifesting with atypical HNPP phenotype associated with a new Thr99fsX110 mutation in the PMP22 gene. We conclude that all patients who fulfill the electrophysiological criteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mutations in the PMP22 gene.

The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease

100%

Sinkiewicz-Darol E., Kabzińska D., Moszyńska I., Kochański A.

2010

vol. 57

issue 3

373-377

Little is known about the molecular background of clinical variability of Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP). The CMT1A and HNPP disorders result from duplication and deletion of the PMP22 gene respectively. In a series of studies performed on affected animal transgenic models of CMT1A disease, expression of the PMP22 gene (gene dosage) was shown to correlete with severity of CMT course (gene dosage effect). In this study we hypothesized that single nucleotide polymorphisms (SNPs) located within the 5' regulatory sequence of PMP22 gene may be responsible for the CMT1A/HNPP clinical variability. We have sequenced the PMP22 5' upstream regulatory sequence in a group of 45 CMT1A/HNPP patients harboring the PMP22 duplication (37) /deletion (8). We have identified five SNPs in the regulatory sequence of the PMP22 gene. Three of them i.e. -819C>T, -4785G>T, -4800C>T were detected both in the patients and in the control group. Thus, their pathogenic role in the regulation of the expression of the PMP22 gene seems not to be significant. Two SNPs i.e. -4210T>C and -4759T>A were found only in the CMT patients. Their role in the regulation of the PMP22 gene expression can not be excluded. Additionally we have detected the Thr118Met variant in exon 4 of the PMP22 gene, which was previously reported by other authors, in one patient. We conclude that the 5' regulatory sequence of the PMP22 gene is conserved at the nucleotiode level, however rarely occurring SNPs variant in the PMP22 regulatory sequence may be associated with the gene dosage effect.

Utilization of spent iron catalyst for ammonia synthesis

52%

Arabczyk W., Narkiewicz U., Lendzion-Bieluń Z., Moszyński D., Pełech I., Ekiert E., Podsiadły M., Pelka R., Jędrzejewski R., Moszyńska I., Sibera D.

Polish Journal of Chemical Technology

2007

vol. 9

issue 3

108-113

Several methods of the utilization of spent iron catalyst for ammonia synthesis have been presented. The formation of iron nitrides of different stoichiometry by direct nitriding in ammonia in the range of temperatures between 350°C and 450°C has been shown. The preparation methods of carbon nanotubes and nanofibers where iron catalyst catalyse the decomposition of hydrocarbons have been described. The formation of magnetite embedded in a carbon material by direct oxidation of carburized iron catalyst has been also presented.

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2 Acta Biochimica Polonica

1 Polish Journal of Chemical Technology

1 2010

1 2009

1 2007

3 Moszyńska I.

2 Kabzińska D.

2 Kochański A.

2 Sinkiewicz-Darol E.

1 Arabczyk W.

1 Ekiert E.

1 Jędrzejewski R.

1 Lendzion-Bieluń Z.

1 Moszyński D.

1 Narkiewicz U.

1 Pelka R.

1 Pełech I.

1 Podsiadły M.

1 Sibera D.

Search results

A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies

The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease

Utilization of spent iron catalyst for ammonia synthesis