Naslov
Mutations in phosphomannomutase 2 (PMM2) gene - Croatian report.

Autori
Šupraha Goreta, Sandra ; Štimac, Hrvoje ; Flögel, Mirna ; Dumić, J.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Satellite Meeting to the 30th FEBS Congress and 9th Conference, GLYCOPROTEOMICS: protein modifications for versatile functions, BOOK OF ABSTRACTS / Dumić, Jerka ; Flogel, Mirna - Zagreb, 2005

Skup
Satellite Meeting to the 30th FEBS Congress and 9th Conference, GLYCOPROTEOMICS: protein modifications for versatile functions

Mjesto i datum
Dubrovnik, Hrvatska, 28.06.2006. - 30.06.2006

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
phosphomannomutase 2; mutations; SSCP

Sažetak
MUTATIONS IN PHOSPHOMANNOMUTASE 2 (PMM2) GENE-CROATIAN REPORT Šupraha, S. ; Štimac, H., Flögel, M. ; Dumić, J. Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia Congenital disorder of glycosylation (CDG) Ia (MIM≠ 212065) is an autosomal recessive multi-organ disease characterized by severe dysfunction of central and peripheral nervous system. Deficiency of the cytosolic enzyme phosphomannomutase 2 (PMM2) lead to hypoglycosylation by lowering the intracellular mannose-1-phosphate pool. It is a consequence of mutations in PMM2 gene. More than 85 different mutations in the PMM2 gene known so far are widespread over the gene consisting of 8 exons. The most frequent ones are R141H and F119L, both caused by a single base mutation in exon 5 of PMM2 gene, 422G>A and 357C>A, respectively. Here we present the results of screening for mutations in the exon 5 and parts of intervening sequences IVS4 and IVS5 of PMM2 gene in Croatian population. The study encompassed 104 unrelated individuals. Screening was performed by PCR-SSCP analysis (6% polyacrilamide electrophoresis, 15 C). 10 fragments that showed aberrant patterns were additionally sequenced on ABI Prism 310 Genetic Analyzer. R141H and F119L mutations were not found in the analyzed group. However, we detected four homozygotes (IVS5+19T/T) and six heterozygotes (IVS5+19T/C) for intragenic single nucleotide polymorphism (SNP) IVS5+19T/C, while all 10 individuals were homozygous for SNP IVS5+22T/T. One of the heterozygotes for IVS5+19T/C was also a heterozygote for deletion of 3bp (ATG) on the position -58 in intron 4 (IVS4-58delATG). We have recently undertaken a comprehensive project with a purpose to determine the frequency of the "old" European 422G>A (R141H) mutation, 357C>A (F119L) mutation and some other mutations and polymorphisms in genes related to CDGs in Croatian population. Until now no patient with CDG was detected in Croatian population. Polymorphic intragenic markers [c.447+19T>C (IVS5) and c.447+22T>A (IVS5) will also be screened by SSCP and sequencing. It is yet to confirm the linkage disequilibrium between R141H and the intagenic SNP IVS5+22A. Despite CDG-Ia is a pan-ethnic disease, different population has their own set of mutations. It is yet to determine whether Croatian population is heterogeneous or not.

Izvorni jezik
Engleski

Znanstvena područja
Biologija

POVEZANOST RADA