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Volume: 
Issue: 
2
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Team Smith Lemli Opitz and ( SLOS , MIM 27400 ) is an autosomal recessive disorder . It is characterized by mental retardation , altered facial appearance and numerous irregularities in the construction of many organs . The cause of many defects is a deficit activity of 7- dehydrocholesterol reductase ( DHCR7 ) , the enzyme that catalyzes the last step in the biosynthesis of cholesterol. Recently it was discovered that cholesterol plays a key role in embryonic development of the organism by regulating the activities of signal proteins ( sonic hedgehog , SHH ) . SLO syndrome incidence of 1:60000 to 1:10000 . The gene encoding a protein DHCR7 reductase has been located on chromosome 11 q13 position . According to previous reports, more than 90 known mutations in the different DHCR7 . Most mutations are single nucleotide substitutions (90 %). Very rare mutations are deletions and insertions ( 10 %). There are attempts to establish the correlation between genotype and phenotype of the disease. Mild symptoms in patients (type I SLO) are caused by mutations in codon changing information . Severe form of the disease (type II SLO) is associated with mutations changing the reading frame and introducing a termination codon that completely abolish the activity of the enzyme protein .

The Editorial Board
Andrzej Łukaszyk - przewodniczący, Zofia Bielańska-Osuchowska, Szczepan Biliński, Mieczysław Chorąży, Aleksander Koj, Włodzimierz Korochoda, Leszek Kuźnicki, Aleksandra Stojałowska, Lech Wojtczak

Editorial address:
Katedra i Zakład Histologii i Embriologii Uniwersytetu Medycznego w Poznaniu, ul. Święcickiego 6, 60-781 Poznań, tel. +48 61 8546453, fax. +48 61 8546440, email: mnowicki@ump.edu.pl

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