Key result
FNIP1 deficiency is linked to an AMPK gain-of-function phenotype causing HCM, WPW, and immunodeficiency.
Why the study?
FNIP1 deficiency causes a gain of function in AMPK phosphorylation associated with hypertrophic cardiomyopathy, pre-excitation syndrome, myopathy, and immunodeficiency, but the genetic basis and clinical syndrome require characterization.
FNIP1 deficiency warrants cardiac and immunologic evaluation; leaves open whether AMPK modulation alters outcomes.
AMPK (adenosine monophosphate-activated protein kinase) is phosphorylated (AMPK-P) in response to low energy through allosteric activation by Adenosine mono- or diphosphate (AMP/ADP). Folliculin (FLCN) and the FLCN-interacting proteins 1 and 2 (FNIP1, 2) modulate AMPK. FNIP1 deficiency patients have a AMPK-P gain of function phenotype with hypertrophic cardiomyopathy, Wolff-Parkinson-White pre-excitation syndrome, myopathy of skeletal muscles and combined immunodeficiency.
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Niehues et al. (2020) studied Syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome. FNIP1 deficiency was evaluated. FNIP1 deficiency is associated with an AMPK-P gain of function phenotype presenting with hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, myopathy, and combined immunodeficiency.
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