Researchers from Guangdong Medical University published data from a study that aimed to identify novel biomarkers that would allow for comprehensive assessment of prognosis and immunotherapy response in patients with testicular germ cell tumors (TGCT).
Metabolic reprogramming in cancer involves glycolytic enzymes acquiring noncanonical functions and acting as protein kinases, which contribute to tumor progression and present new therapeutic opportunities. While hexokinase domain-containing protein 1 (HKDC1), a hexokinase family member, has been implicated in tumor growth and immune evasion, its nonmetabolic roles remain poorly understood.
Branchio-Oto-Renal syndrome 1 (BOR1) is caused by pathogenic variants in the EYA1 gene, and the gene behind the pathogenesis of BOR2 is SIX5. Growing evidence exists regarding GATA and PAX-SIX-EYA-DACH transcriptional networks playing a key role in normal development. A case report of a patient harboring a new variant in the DACH1 gene was recently presented.
Enigma Biomedical USA Inc. has selected two four-repeat tau (4R tau) protein PET imaging biomarkers to advance into phase I studies. These imaging biomarkers show promise as important new tools in advancing understanding of neurodegenerative diseases in which the misfolded 4R tau protein is implicated.
Mosaic variegated aneuploidy syndrome (MVAS) is an autosomal recessive disorder characterized by mosaic aneuploidy. Its clinical manifestations include growth and developmental delay, congenital malformations and increased cancer risk. Genetic variants involved in MVAS affect the chromosomal segregation during mitosis, where individuals often show mosaicism and chromosomal instability.
Selenoprotein O (SELENOO) is an antioxidant mitochondrial enzyme that transfers AMP from ATP to protein substrates in a post-translational process known as AMPylation.
Mood disorders include major depressive disorder and bipolar disorder, and they affect mood and cognition. It is known that mood disorders share a genetic heritable background, but the environmental factors also play a key role here. Recent data had highlighted the potential role of micro RNAs (miRNAs) in the pathogenesis of mood disorders.
To identify new genetic modifiers for epidermolysis bullosa simplex (EBS), a team led by scientists at Tel Aviv Medical Center performed exome sequencing of 195 patients with EBS from 90 different families, followed by screening for pathogenic variants in selected individuals, which resulted in identification of 3 variants in HMCN1 (codes for hemicentin-1) that co-segregated with the disease phenotype severity in 4 families.
Neurodevelopmental disorders related to protein phosphatase 2A (PP2A) have been recently renamed as Houge-Janssens syndrome and they are caused by heterozygous, de novo pathogenic genetic variants in the PPP2R5D, PPP2R1A or PPP2CA genes. The syndrome is characterized by features such as intellectual disability, autism, developmental delay, seizures or brain abnormalities, among others.
For the first time, researchers have identified that inflammation – long associated with multiple sclerosis (MS) – appears to cause increased mutations that damage neurons linked to MS progression. Researchers at the Florey Institute and the University of Melbourne studied MS brain lesions, which are areas of past or ongoing brain inflammation that are visible as spots on MRI scans.
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