Key result
Novel PNPLA2 mutation linked to severe cardiomyopathy via complete adipose triglyceride lipase deficiency.
Why the study?
Mutations in ATGL encoded by PNPLA2 cause NLSDM with variable clinical severity, especially regarding cardiac involvement.
Case Report (n=1)
Reports a novel mutation in the PNPLA2 gene causing complete deficiency of adipose triglyceride lipase and severe cardiomyopathy in a young patient.
Alerts clinicians to PNPLA2 mutations in unexplained young-onset cardiomyopathy; hypothesis-generating and requires validation in larger cohorts.
Mutations in the adipose triglyceride lipase (ATGL), an enzyme that hydrolyzes fatty acids from triacylglycerol (TG) stored in multiple tissues into cytoplasmic lipid droplets (LDs), causes the autosomal recessive disorder Neutral Lipid Storage Disease with myopathy (NLSDM) [2]. ATGL protein is coded by PNPLA2 gene. NLSDM patients are mainly affected by progressive myopathy, cardiomyopathy and hepatomegaly. Their clinical severity appears to be highly variable with particular reference to cardiac involvement [1,6–8].
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Pasanisi et al. (2016) conducted a case report in Severe cardiomyopathy / Neutral Lipid Storage Disease with myopathy (NLSDM) (n=1). Novel mutation in PNPLA2 gene was evaluated. A novel mutation in the PNPLA2 gene caused complete deficiency of adipose triglyceride lipase, leading to severe cardiomyopathy in a young patient.
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