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{"title"=>"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", "type"=>"journal", "authors"=>[{"first_name"=>"Bogusław", "last_name"=>"Nedoszytko", "scopus_author_id"=>"6602094336"}, {"first_name"=>"Alicja", "last_name"=>"Siemińska", "scopus_author_id"=>"7003570269"}, {"first_name"=>"Dominik", "last_name"=>"Strapagiel", "scopus_author_id"=>"13408028100"}, {"first_name"=>"Sławomir", "last_name"=>"Dąbrowski", "scopus_author_id"=>"7007143809"}, {"first_name"=>"Marcin", "last_name"=>"Słomka", "scopus_author_id"=>"56861957100"}, {"first_name"=>"Marta", "last_name"=>"Sobalska-Kwapis", "scopus_author_id"=>"56862272500"}, {"first_name"=>"Błażej", "last_name"=>"Marciniak", "scopus_author_id"=>"57193004166"}, {"first_name"=>"Jolanta", "last_name"=>"Wierzba", "scopus_author_id"=>"6603350564"}, {"first_name"=>"Jarosław", "last_name"=>"Skokowski", "scopus_author_id"=>"7004667281"}, {"first_name"=>"Marcin", "last_name"=>"Fijałkowski", "scopus_author_id"=>"14044833300"}, {"first_name"=>"Roman", "last_name"=>"Nowicki", "scopus_author_id"=>"7004484706"}, {"first_name"=>"Leszek", "last_name"=>"Kalinowski", "scopus_author_id"=>"6701728947"}], "year"=>2017, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "scopus"=>"2-s2.0-85033381937", "sgr"=>"85033381937", "pui"=>"619091809", "isbn"=>"1111111111", "pmid"=>"29095929", "doi"=>"10.1371/journal.pone.0187365"}, "id"=>"eefd3a36-7590-3763-a4a4-8befce524f48", "abstract"=>"BACKGROUND/OBJECTIVES: The mitochondrial beta-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 alpha- and beta-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/METHODS: We 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. RESULTS: We 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. CONCLUSION: Our 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.", "link"=>"http://www.mendeley.com/research/high-prevalence-carriers-variant-c1528gc-hadha-gene-causing-longchain-3hydroxyacylcoa-dehydrogenase", "reader_count"=>8, "reader_count_by_academic_status"=>{"Unspecified"=>2, "Professor > Associate Professor"=>1, "Student > Ph. D. Student"=>2, "Other"=>2, "Student > Master"=>1}, "reader_count_by_user_role"=>{"Unspecified"=>2, "Professor > Associate Professor"=>1, "Student > Ph. D. Student"=>2, "Other"=>2, "Student > Master"=>1}, "reader_count_by_subject_area"=>{"Unspecified"=>3, "Biochemistry, Genetics and Molecular Biology"=>2, "Nursing and Health Professions"=>1, "Medicine and Dentistry"=>2}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>2}, "Nursing and Health Professions"=>{"Nursing and Health Professions"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>2}, "Unspecified"=>{"Unspecified"=>3}}, "group_count"=>0}

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• http://doi.org/10.3390/ijms19010322

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