Disease relevance of ALDH7A1

• Structural and mutational analysis of antiquitin as a candidate gene for Menière disease [1].

High impact information on ALDH7A1

• Mutations in antiquitin in individuals with pyridoxine-dependent seizures [2].
• Antiquitin is a member of the aldehyde dehydrogenase superfamily [3].
• Seabream antiquitin: molecular cloning, tissue distribution, subcellular localization and functional expression [4].
• The neighbor-joining tree derived from 12 human ALDHs and antiquitin indicates that diversification within the ALDH1/2/5/6 gene cluster occurred during the Neoproterozoic period (about 800 million years ago) [5].
• The Vmax of antiquitin was only approximately 12% of ALDH-2 [6].

Biological context of ALDH7A1

• Transfection of the mutant cells with normal PIG-A restored expression of glycosyl phosphatidylinositol anchored proteins but not antiquitin [7].
• These experiments demonstrated that the pattern of gene expression was different between the two cells lines in that the PIG-A mutant cells failed to express antiquitin mRNA [7].
• The purified protein, with a subunit M.W. of 57,500, was identified as antiquitin (turgor ALDH) by its first 18 N-terminal amino acid residues, which showed 83% identity with the deduced amino acid sequence of human antiquitin [6].
• Within this cohort, molecular analysis identified 10 novel mutations (six missense mutations, one nonsense mutation, two splice site mutations) within highly conserved regions of the antiquitin gene [8].

Associations of ALDH7A1 with chemical compounds

• Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene [8].
• Recently, PDE has been shown to be caused by a defect of alpha-amino adipic semialdehyde (AASA) dehydrogenase (antiquitin) in the cerebral lysine degradation pathway [8].

Analytical, diagnostic and therapeutic context of ALDH7A1

• Measurement of urinary alpha-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis [2].
• Results of RT-PCR indicate that antiquitin is highly expressed in both the seabream liver and kidney [4].
• Purification, N-terminal sequence determination and enzymatic characterization of antiquitin from the liver of grass carp [9].

References