www.nationalcprassociation.com

Członkowie Konsorcjum BBMRI.pl - Gdański Uniwersytet Medyczny we współpracy z Pracownią Biobank przygotowali artykuł o zróżnicowanej częstości występowania polimorfizmów ściśle wiązanych z autosomalną chorobą metaboliczną w różnych regionach Polski i na tle Europy: "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". Praca została przyjęta do druku na łamach PLoS ONE (IF=2,806). Zapraszamy do lektury.

 

Bogusław Nedoszytko1, Alicja Siemińska2, Dominik Strapagiel3,4, Sławomir Dąbrowski5, Marcin Słomka1, Marta Sobalska-Kwapis3,4, Błażej Marciniak3,4, Jolanta Wierzba6, Jarosław Skokowski4,7, Marcin Fijałkowski8, Roman Nowicki1, Leszek Kalinowski4,9.

 

    1. Department of Dermatology, Venereology and Allergology, Medical University of Gdansk, Gdańsk, Poland
    2. Department of Pneumonology and Allergology, Medical University of Gdansk, Gdańsk, Poland
    3. Biobank Lab, Department of Molecular Biophysics, Faculty of Biology and Environmental Protection, University of Lodz, Lodz, Poland 
    4. BBMRI.pl Consortium, Wrocław, Poland
    5. A&A Biotechnology s.c., Gdynia, Poland
    6. Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, Gdańsk, Poland
    7. Department of Oncological Surgery, Medical University of Gdansk, Gdańsk, Poland
    8. I Department of Cardiology, Medical University of Gdansk, Gdańsk, Poland
    9. Department of Medical Laboratory Diagnostic, Central Bank of Frozen Tissues and Genetic Specimens, Medical University of Gdansk, Gdańsk, Poland

  

Background/Objectives


The 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/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. 

 

Praca finansowana w ramach:

POIG grant No. 01.01.02-10-005/08 TESTOPLEK from the European Regional Development Fund.
Polish Ministry of Science and Higher Education grant 02-0066/07/253 and DIR/WK/2017/01