[HTML][HTML] A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis
Obesity and insulin resistance are associated with deposition of triglycerides in tissues other
than adipose tissue. Previously, we showed that a missense mutation (I148M) in PNPLA3
(patatin-like phospholipase domain-containing 3 protein) is associated with increased
hepatic triglyceride content in humans. Here we examined the effect of the I148M
substitution on the enzymatic activity and cellular location of PNPLA3. Structural modeling
predicted that the substitution of methionine for isoleucine at residue 148 would restrict …
than adipose tissue. Previously, we showed that a missense mutation (I148M) in PNPLA3
(patatin-like phospholipase domain-containing 3 protein) is associated with increased
hepatic triglyceride content in humans. Here we examined the effect of the I148M
substitution on the enzymatic activity and cellular location of PNPLA3. Structural modeling
predicted that the substitution of methionine for isoleucine at residue 148 would restrict …