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
Publication Date
November 02, 2017
Journal
PLOS ONE
Authors
Bogusław Nedoszytko, Alicja Siemińska, Dominik Strapagiel, Sławomir Dąbrowski, et al
Volume
12
Issue
11
Pages
e0187365
DOI
https://dx.plos.org/10.1371/journal.pone.0187365
Publisher URL
http://journals.plos.org/plosone/article?id=10.1371%2Fjournal.pone.0187365
Scopus
85033381937
Mendeley
http://www.mendeley.com/research/high-prevalence-carriers-variant-c1528gc-hadha-gene-causing-longchain-3hydroxyacylcoa-dehydrogenase
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Mendeley | Further Information

{"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}

Scopus | Further Information

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