Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Kohlmaier, B; Skok, K; Lackner, C; Haselrieder, G; Müller, T; Sailer, S; Zschocke, J; Keller, MA; Knisely, AS; Janecke, AR.
Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.
Int J Obes (Lond). 2024; 48(12): 1818-1821.
Doi: 10.1038/s41366-024-01634-z
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Knisely Alexander
- Kohlmaier Benno
- Co-Autor*innen der Med Uni Graz
- Lackner Karoline
- Skok Kristijan
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- Abstract:
- BACKGROUND: Metabolic dysfunction-associated steatotic liver disease (MASLD) is considered multifactorial with a number of predisposing gene polymorphisms known. METHODS: The occurrence of MASLD in 7 and 10 year old siblings, one without classical risk factors and one with type 2 diabetes suggested a monogenic etiology and prompted next-generation sequencing. Exome sequencing was performed in the proband, both parents and both siblings. The impact of a likely disease-causing DNA variant was assessed on the transcript and protein level. RESULTS: Two siblings have hepatomegaly, elevated serum transaminase activity, and steatosis and harbor a homozygous DECR1 splice-site variant, c.330+3A>T. The variant caused DECR1 transcript decay. Immunostaining demonstrated lack of DECR1 in patient liver. CONCLUSIONS: These patients may represent the first individuals with DECR1 deficiency, then defining within MASLD an autosomal-recessive entity, well corresponding to the reported steatotic liver disease in Decr1 knockout mice. DECR1 may need to be considered in the genetic work-up of MASLD.
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- Humans - administration & dosage
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- Fatty Liver - genetics
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- Female - administration & dosage
- Siblings - administration & dosage
- Genetic Predisposition to Disease - administration & dosage