Phenylketonuria (PKU) is an autosomal recessive disorder where the primary catabolic pathway for phenylalanine (Phe) is disrupted due to mutations in the gene encoding PAH. Elevated Phe levels lie behind several neuropathologic anomalies that can lead to severe and irreversible mental retardation, if untreated.
Researchers from Baylor College of Medicine presented data from postnatal testing with the aim of providing molecular diagnosis for a patient with prenatally diagnosed heterotaxy syndrome.
Genome sequencing is a successful approach for simultaneously detecting both copy number variants and sequence variants in genes involved in autosomal recessive diseases.
Geleophysic dysplasia (GD) is an autosomal recessive disease characterized by facial features, short stature, limited joint mobility and cardiovascular and respiratory abnormalities, which can lead to a significant mortality rate. The disease is caused by biallelic genetic variants in the ADAMTSL2 gene. Little is known about the pathogenesis of the disease, but dysregulation of the TGF-β pathway has been shown to be involved.
Body mass index (BMI), which is calculated from height and weight, and its relationship to health is a hotly debated area of health. On the one hand, “it’s cheap, it’s intuitive, it’s noninvasive and easy to calculate,” Noa Rappaport told BioWorld. “But it misses a lot.” In the March 20, 2023, online issue of Nature Medicine, Rappaport’s group describes an alternative measure, which they have termed the biological BMI, that “better reflects metabolic health than traditional BMI,” said Rappaport, who is a senior research scientist at the Institute for Systems Biology and the paper’s corresponding author.
A study from the University Medical Center Hamburg-Eppendorf (UKE) in Germany has identified a type of T cell that triggered glomerulonephritis (GN) and produced loss of kidney function in mice. The scientists described an autoimmune pathway of this disease mediated by the accumulation of T cells producing granulocyte-macrophage colony-stimulating factor (GM-CSF) in the kidneys and found a possible therapeutic target.
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