TABLE 1.
Fatty aldehyde dehydrogenase activities in SLS patients' cells
| Activity |
ALDH3A2 Mutation |
||||||
|---|---|---|---|---|---|---|---|
| Sample | n | (pmol min−1 mg−1) | % of Control | Allele 1 Nucleotide | Allele 1 Translation | Allele 2 Nucleotide | Allele 2 Translation |
| Controls 1–5 mean | 16 | 30.1 ± 4.39 | 100 ± 14.6 | ||||
| SLS patient 1 | 4 | 4.7 ± 0.62 | 15.5 ± 2.1 | c.487_488insA | p.I163fs | c.487_488insA | p.I163fs |
| SLS patient 2 | 4 | 4.5 ± 0.58 | 14.9 ± 1.9 | c.943C>T | p.P315S | c.1297_1298delGA | p.E433fs |
| SLS patient 3 | 4 | 4.3 ± 0.50 | 14.1 ± 1.7 | c.1384_1387delGAAA | p.E462fs | c.1384_1387delGAAA | p.E462fs |
| SLS patient 4 | 4 | 3.1 ± 0.52 | 10.4 ± 1.7 | c.178G>T | p.E60X | c.471delG | p.52-157del |
| SLS patient 5 | 4 | 4.4 ± 1.26 | 14.7 ± 4.2 | c.901G>C, c.906delT | p.A301P, p.F302fs | c.901G>C, c.906delT | p.A301P, p.F302fs |
| SLS patient 6 | 3 | 1.2 ± 0.25 | 3.9 ± 0.83 | c.1094C>T | p.S365L | c.471 + 2T>G | p.52-157del |
| SLS patients 1–6 mean | 23 | 3.8 ± 0.36 | 12.2 ± 1.2 | ||||
Fatty aldehyde dehydrogenase was determined by formation of pyrenedecanoic acid from pyrenedecanal in homogenates of cultured fibroblasts as described in Materials and Methods. Values shown are means ± SEM. Numbers of nucleotides correspond to the coding region of the mRNA with the accession number NM_000382.1 and numbers of protein residues to the protein with the accession number NP_000373.1.