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High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome

Abstract : Background and aims: Genetic partial lipodystrophies are rare heterogeneous disorders characterized by abnormalities of fat distribution and associated metabolic complications including a predisposition for atherosclerotic cardiovascular disease. We hypothesized that the milder forms of these diseases might be under-diagnosed and might result in early acute coronary syndrome (ACS) as the first sign of the pathology. Methods: We performed targeted sequencing on a panel of 8 genes involved in genetic lipodystrophy for 62 patients with premature ACS, and selected heterozygous missense variations with low frequency. To confirm those results, we analyzed a second independent group of 60 additional patients through Sanger sequencing, and compared to a control group of 120 healthy patients. Results: In the first cohort, only PLIN1 exhibited variants in more than 1 patient. In PLIN1, 3 different variants were found in 6 patients. We then analyzed PLIN1 sequence in the second cohort with premature ACS and found 2 other patients. Altogether, 8 patients were carriers of 4 different mutations in PLIN1. The variant frequencies in the total cohort of 122 patients were compared to frequencies observed in a local control cohort and in 2 different public databases showing a significant difference between patient vs control group frequencies for two mutations out of 4 (c.245C > T p = 10(-4); c.839G > A p = 0.014). Discussion: This is the first study that identifies a high frequency of potential pathogenic mutations in PLIN1 related to early onset ACS. These findings could contribute to the prevention and care of precocious ACS in families carrying those mutations.
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Submitted on : Wednesday, April 28, 2021 - 4:35:47 PM
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Nathalie Bonello-Palot, Marc Laine, Thomas Cuisset, Thibault Ronchard, Camille Desgrouas, et al.. High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome. Atherosclerosis, Elsevier, 2020, 293, pp.86 - 91. ⟨10.1016/j.atherosclerosis.2019.12.002⟩. ⟨hal-02624173⟩



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