ArticlePloS one2017
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions.Annals of medicine · 2026Review
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)-Associated Ocular Pathology-A Narrative Review.Diagnostics (Basel, Switzerland) · 2026Review
- How Genes Meet Diet in LCHAD Deficiency: Nutrigenomics of Fatty Acid Oxidation Disorder.International journal of molecular sciences · 2025Review
- Macular Neovascularization in Pediatric Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Retrospective Analysis of a Case Series.Journal of clinical medicine · 2025Article
- Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.International journal of neonatal screening · 2025Review
- CALHM2 is a mitochondrial protein import channel that regulates fatty acid metabolism.Research square · 2024Article
- A case report of necrotizing enterocolitis in a moderately preterm neonate with LCHADD-A call to focus on the basics while utilizing advanced new therapies.Frontiers in pediatrics · 2023Article
- Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.Journal of applied genetics · 2022Review
- Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Review
- Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.Genetics and molecular biology · 2020Article
- Using Mitochondrial Trifunctional Protein Deficiency to Understand Maternal Health.Journal of cellular signaling · 2020Article
- Role of 3-Hydroxy Fatty Acid-Induced Hepatic Lipotoxicity in Acute Fatty Liver of Pregnancy.International journal of molecular sciences · 2018Review
- Ophthalmic Symptoms of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: A Report of Three Cases.Case reports in ophthalmologyArticle
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
objectivesThe mitochondrial β-oxidation of fatty acids is a complex catabolic pathway. One of the enzymes of this pathway is the heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits. Mutations in MTP genes (HADHA and HADHB), both located on chromosome 2p23, cause MTP deficiency, a rare autosomal recessive metabolic disorder characterized by decreased activity of MTP. The most common MTP mutation is long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency caused by the c.1528G>C (rs137852769, p.Glu510Gln) substitution in exon 15 of the HADHA gene. SUBJECTS/
methodsWe analyzed the frequency of genetic variants in the HADHA gene in the adults of Kashubian origin from North Poland and compared this data in other Polish provinces.
resultsWe found a significantly higher frequency of HDHA c.1528G>C (rs137852769, p.Glu510Gln) carriers among Kashubians (1/57) compared to subjects from other regions of Poland (1/187). We found higher frequency of c.652G>C (rs71441018, pVal218Leu) polymorphism in the HADHA gene within population of Silesia, southern Poland (1/107) compared to other regions.
conclusionOur study indicate described high frequency of c.1528G>C variant of HADHA gene in Kashubian population, suggesting the founder effect. For the first time we have found high frequency of rs71441018 in the South Poland Silesian population.
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