Publications by authors named "Zdenek Jaros"
We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequencing in family 2 excluded known genetic etiologies, and further variant analysis identified rare homozygous variants in TKFC. TKFC encodes a bifunctional enzyme involved in fructose metabolism through its glyceraldehyde kinase activity and in the generation of riboflavin cyclic 4',5'-phosphate (cyclic FMN) through an FMN lyase domain.
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- Both obesity and being underweight are linked to higher mortality, with underweight defined as a BMI ≤ 18.5 kg/m² in adults and associated with various clinical conditions, including eating disorders and failure to thrive.
- A study identifies that a duplication of a specific region on chromosome 16, previously linked to obesity, is now found to cause underweight conditions in individuals, especially in young boys and adults.
- The research highlights a significant correlation between the duplication, reduced weight and BMI, specific eating behaviors, and changes in gene expression, suggesting that severe obesity and underweight may have opposite biological causes.