Publications by authors named "Iveta Tothova"
Article Synopsis
- Recent findings on biallelic DNAJC30 variants challenge the idea that Leber hereditary optic neuropathy (LHON) is only passed down from mothers and broaden the understanding of Leigh syndrome, the most common mitochondrial disease in kids.
- A study identified 28 new individuals with a specific DNAJC30 genetic variant: 24 had LHON, 2 had Leigh syndrome, and 2 were asymptomatic, indicating that the genetic impact varies by sex.
- Those with autosomal recessive LHON showed earlier onset and better recovery rates with treatment compared to previously known maternal cases, and the discovery of two more Leigh syndrome patients enhances the link between DNAJC30 and this condition.
Article Synopsis
- This study analyzed data from 47 Czech patients with Single, Large-Scale Mitochondrial DNA Deletions (SLSMD), focusing on clinical and genetic factors.
- The diagnosis involved long-range PCR testing of mtDNA from muscle biopsies and other sources, revealing that 57% of patients showed symptoms before age 16, without significant differences between pediatric and adult cases in terms of symptom severity.
- The findings suggest that while pediatric cases of Progressive External Ophthalmoplegia (PEO) do not increase risk for other complications, Pearson Syndrome remains a significant cause of childhood mortality, highlighting the need for thorough diagnostic methods, including analysis of buccal swabs and urinary cells.
Background: As the leading cause of congestive heart failure, cardiomyopathy represents a heterogenous group of heart muscle disorders. Despite considerable progress being made in the genetic diagnosis of cardiomyopathy by detection of the mutations in the most prevalent cardiomyopathy genes, the cause remains unsolved in many patients. High-throughput mutation screening in the disease genes for cardiomyopathy is now possible because of using target enrichment followed by next-generation sequencing.
View Article and Find Full Text PDFObjective: Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance.
View Article and Find Full Text PDFFamilial visceral myopathy (FVM) is a rare heritable and heterogeneous condition due to impaired smooth muscle function. We identified a family segregating 11 individuals with a spectrum of visceral symptoms involving the small intestine, colon, biliary tract, urinary tract and uterus. Whole-exome sequencing revealed a novel heterozygous tandem base substitution c.
View Article and Find Full Text PDFAutosomal recessive forms of Charcot-Marie-Tooth disease (CMT) account for less than 10 % of all CMT cases, but are more frequent in the populations with a high rate of consanguinity. Roma (Gypsies) are a transnational minority with an estimated population of 10 to 14 million, in which a high degree of consanguineous marriages is a generally known fact. Similar to the other genetically isolated founder populations, the Roma harbour a number of unique or rare autosomal recessive disorders, caused by "private" founder mutations.
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