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Genotype-phenotype correlation in a SCA1 family: anticipation without CAG expansion

100%

Bauer P. O., Matoska V., Zumrova A., Boday A., Doi H., Marikova T., Goetz P.

Journal of Applied Genetics

2005

tom 46

nr 3

325-328

We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of CAG repeat units. Although a marked anticipation was observed in the proband, it was not a consequence of an expansion of the CAG tract. None of the expanded alleles contained CAT interruptions. The pathologic expansion in this family was stable during the paternal but not maternal transmission, where it expanded by one trinucleotide and unexpectedly did not lead to anticipation. Our observations suggest that factors other than the length of the CAG repeat play a considerable role in determination of the disease course.

Glutamate exocrine dynamics augmented by plasma glutamine and the distribution of amino acid transporters of the rat pancreas

68%

Fukushima D., Doi H., Fukushima K., Katsura K., Ogawa N., Sekiguchi S., Fujimori K., Sato A., Satomi S., Ishida K., Fukushima K.

Journal of Physiology and Pharmacology

2010

tom 61

nr 3

265-271

The nutritional and physiological roles of amino acid (AA)s have been investigated for individual organs. In the current study, we focused on the dynamics of glutamate and transport systems in the pancreas. We employed original procedures to obtain rat pancreatic juice (PJ) subjected to intravenous administration of alanyl-glutamine (AG) for AA analysis. The pancreatic expressions of the transporters were evaluated by immunohistochemistry. We found that glutamate was secreted into the PJ in the basal state. The intravenous administration of AG increased the concentration and total amount of glutamate excreted into the PJ. In terms of the transport systems, L-type AA transporter (LAT1) was identified exclusively in the islet cells. Glutamate transporter 1 (GLT1), glutamate-aspartate transporter (GLAST), vesicular glutamate transporter 1 (VGUT1) and cystine/glutamic acid transporter (xCT) were found in the islet cells. xCT was identified in the duct cells as well, but was not accompanied by the expression of 4F2 heavy chain (4F2hc) staining in the islets and the acinar cells, similar to neutral AA transporter (ASCT2) or b0,+-type AA transporter 1(BAT1). Excitatory AA transporter (EAAC) was identified only in the acinar cells. Glutamate was exclusively found in the acinar cells. We revealed the novel dynamics of glutamate in the rat PJ. The glutamate secretion into the PJ was augmented by plasma glutamine, indicating the de novo metabolisms of glutamate, together with the local expression of the related transporters.

Ograniczanie wyników

1 Journal of Applied Genetics

1 Journal of Physiology and Pharmacology

2 Doi H.

1 Bauer P. O.

1 Boday A.

1 Fujimori K.

1 Fukushima D.

1 Fukushima K.

1 Goetz P.

1 Ishida K.

1 Katsura K.

1 Marikova T.

1 Matoska V.

1 Ogawa N.

1 Sato A.

1 Satomi S.

1 Sekiguchi S.

1 Zumrova A.

1 2010

1 2005

Wyniki wyszukiwania

Genotype-phenotype correlation in a SCA1 family: anticipation without CAG expansion

Glutamate exocrine dynamics augmented by plasma glutamine and the distribution of amino acid transporters of the rat pancreas