Balkan Journal of Medical Genetics

ASSOCIATION OF VARIANTS IN THE CP, ATOX1 AND COMMD1 GENES WITH WILSON DISEASE SYMPTOMS IN LATVIA
Zarina A1,2*, Tolmane I3,4, Krumina Z2, Tutane AI1, Gailite L1
*Corresponding Author: Ms. Agnese Zarina, Scientific Laboratory of Molecular Genetics, Rīga Stradiņš University, 16 Dzirciema Street, Riga, Latvia, LV-1007. Tel.: +371-6706-1542. Fax: +371-67-471-815. E-mail: agnese.zarina@rsu.lv or zarina.agnese@gmail.com
page: 37

INTRODUCTION

Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism, caused by allelic variants of the ATP7B gene. Wilson’s disease has been established as a monogenic disorder, although heterogeneity in phenotype is observed even in patients possessing the same type of allelic variants in the ATP7B gene, leading to the assumption about other genetic modifiers affecting the WD phenotype [1]. There are many studies looking for factors modifying the clinical presentation of WD, such as allelic variants in the genes COMMD1, ATOX1, XIAP, APOE DMT1 (SLC11A2), ATP7A, MTHFR, ESD, INO80 and PRNP genes, as well as changes in epigenetic mechanisms of gene expression regulation [2-4]. Moreover, as the main pathogenetic mechanism is copper metabolism disorder, in this study we analyzed pathogenic variants in the genes affecting copper metabolism; there are previously described pathogenic variants and related phenotypes with the COMMD1 and ATOX1 genes [5,6]. One of the criteria of WD diagnostics is decreased ceruloplasmin level. Disturbed ceruloplasmin biosynthesis caused by pathogenic allelic variants of the CP gene leads to decreased ceruloplasmin level in the blood, which disrupts iron metabolism, resulting in iron accumulation in various organs, especially basal ganglia, causing serious neuronal damage. Iron accumulation in the brain leads to neurodegeneration and neurological symptoms such as motor disorientation and other motor deficits in the age range of 45 to 55 years [7]. The association of the CP gene allelic variants and different diseases is described in various studies of Parkinson’s disease [8] and atrial fibrillation (AFib) [9,10], concluding that changes in the CP gene promoter may be associated with altered levels of ceruloplasmin.

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