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Mutation 985A>G in the MCAD gene shows low incidence in Estonian population

✍ Scribed by Hardo Lilleväli; Külli Margus; Katrin Õunap; Andres Metspalu

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
16 KB
Volume
15
Category
Article
ISSN
1059-7794

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✦ Synopsis

Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme responsible for large part of mitochondrial β

β-oxidation of fatty acids and therefore stays on key position of cellular energy supply. In case of its deficiency, starvation, rapid growth periods or infections may cause fatal lack of energy, especially in the first years of life. MCAD deficiency is inherited in an autosomal recessive manner and it has been shown to be rather common in some European countries (Great Britain 1 in 6,000, Switzerland 1 in 10,000). In Caucasoid populations one mutation, the 985A>G transition, causing the amino acid substitution K329E, accounts for about 90% of all mutant MCAD alleles. Here we present data about screening the Estonian population for this mutation. We analyzed the DNA from 1,098 persons from all regions of Estonia (all newborns born in one month) and found 5 heterozygotes for 985A>G, that makes the carrier frequency 1 in 220 and the frequency of possibly affected homozygotes 1 out of 193,000. No mutant alleles were found among the samples of the children, who had unclear diagnosis for death during the years 1994 and 1995.

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