Fig. 1.

The ACAA1 c.896T>C (p.N299S) variant identified in a Han Chinese pedigree with familiar AD disturbed acyltransferase activity. a Pedigree of a Han Chinese family with AD. Individuals who underwent whole-genome sequencing are indicated by asterisks (*). The subject with heterozygous or homozygous allele of rs117916664 was marked by T/C or C/C in the pedigree. b ACAA1 p.N299S protein (N299S) has reduced enzyme activity compared to the wild-type ACAA1 (WT). Purified ACAA1 p.N299S and ACAA1 WT were used for detection of acetyltransferase activity, with ACAA1 WT as the reference for normalization (n = 3 biological replicates for each group). Results are mean ± SD. **P < 0.01, Student’s t test