Where is the Acadm gene located?
The ACADM enzyme functions in mitochondria, the energy-producing centers within cells. It is found in the mitochondria of several types of tissues, particularly the liver. The ACADM gene is located on the short (p) arm of chromosome 1 at position 31, from base pair 75,902,302 to base pair 75,941,203.
How common is the C 985A G mutation?
The mutation c. 985A > G is the most common mutation in clinically detected patients and has been found in 80 % of these individuals in homozygosity and in 18 % in heterozygosity [14, 15].
How common is MCAD deficiency?
In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people. The condition is more common in people of northern European ancestry than in other ethnic groups.
What does acyl-CoA Dehydrogenase do?
The acyl-CoA dehydrogenases (ACADs) are enzymes that catalyze the α,β-dehydrogenation of acyl-CoA esters in fatty acid and amino acid catabolism. Eleven ACADs are now recognized in the sequenced human genome, and several homologs have been reported from bacteria, fungi, plants, and nematodes.
What are the mutations in the ACADM gene?
Newborn screening for MCAD deficiency is widespread, and infants with MCAD deficiency are often detected on the basis of screening. Defects arise from autosomal recessively inherited mutations in the ACADM gene, and MCAD is responsible for the initial dehydrogenation of acyl coenzyme A molecules with a chain length between 4 and 12 carbon atoms.
Are there any novel mutations in acyl CoA dehydrogenase?
One mutation (c.727C>T) was novel and the others (c.158G>A, c.387+1delG, c.449_452del, c.1045C>T, and c.1085G>A) have been previously reported. Our study has revealed the unique genetic backgrounds of MCAD deficiency among Japanese, based on the largest series of non-Caucasian cases.
What kind of enzyme does ACADM encode?
This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway.
Where does the mutation occur in MCAD precursor protein?
The vast majority of patients with MCAD deficiency have a single common missense mutation: an A-to-G transition at cDNA position 985, which changes a lysine residue to glutamate at amino acid 329 of the MCAD precursor protein (192).
