Naslov
S-adenosylhomocysteine hydrolase deficiency: Functional analysis of a new genetic disorder in human

Autori
Vugrek, Oliver ; Belužić, Robert

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

Skup
Congress of the Croatian Society of Biochemistry and Molecular Biology on the occasion of the 30th anniversary with international participation

Mjesto i datum
Vodice, Hrvatska, 03.10.2006. - 07.10.2006

Vrsta sudjelovanja
Pozvano predavanje

Vrsta recenzije
Nije recenziran

Ključne riječi
AdoHcyase; recombinant protein; thermo sensitivity; circular dichroism; vascular disease

Sažetak
We have resolved the molecular basis for S-Adenosylhomocysteine hydrolase (AdoHcyase) deficiency in human. DNA analysis of individuals with extremely high levels of S-Adenosylhomocysteine (AdoHcy) showed a total of 5 different not yet characterized point mutations in the AdoHcyase gene: two point mutations, a premature stop codon and a missense mutation in 2 infants, two missense mutations in an adult with severe mental retardation, and two missense mutations in a newborn causing death at the age of 4 month (unpublished data). Additionaly, several polymorphic isoforms named SAHH-1 to 4 may be resolved by isoelectric focusing from human blood samples. Accordingly, we have identified the genetic background of human isoforms SAHH-2 and SAHH-3. To shed light on the effects of these polymorphisms on the molecular and catalytic properties of AdoHcyase, we made recombinant wild-type and polymorphic enzymes for a comparative analysis. The lecture will summarize the results of the biochemical analysis of the recombinant enzymes and discuss the impact of identified polymorphisms on the health of affected individuals.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Biotehnologija

POVEZANOST RADA