ALGS News Briefs

macrophage

Study Finds Potential Regulators of JAGGED1 Expression in ALGS

Researchers identified 3 transcription factors that are upstream of JAGGED1, an important protein for liver development and physiology, and published their findings in BMC Research Notes. This is an important finding because in diseases like Alagille syndrome (ALGS), where there is a mutation in the gene coding for JAGGED1 in most cases, bile ducts do…

hepatic

Researchers Clarify the Metabolic Role of TAZ Protein in ALGS

The TAZ protein may play a role in metabolic adaptations to chronic cholestasis and may be important in Alagille syndrome (ALGS), according to a new study published in the FASED Journal. This may have potential implications for the clinical regulation of hypercholesterolemia and long-term liver health. TAZ is a paralog of Yes-associated protein 1 (YAP1),…

blood and serum

Novel NOTCH2 Variants Associated With ALGS Pathogenicity

Unique variants in the NOTCH2 gene not included in the Genome Aggregation Database (gnomAD) may be responsible for causing Alagille syndrome (ALGS), according to a study recently published in Liver International. “All NOTCH2 [nonsense-mediated mRNA decay] variants found in gnomAD were not detected in known ALGS patients. And all disease-causing NOTCH2 variants identified in ALGS…

alagille syndrome differential diagnosis

A Novel Case of Left Coronary Ostial Occlusion in a Patient With ALGS

Patients with Alagille syndrome (ALGS) characteristically have developmental disorders in numerous organs, including the heart. In a novel case report, an 8-year-old girl with ALGS was unexpectedly diagnosed with left coronary ostial occlusion, which is not among the expected cardiac manifestations of this disease, according to the study published in Pediatrics International. The patient, who…

bile duct

Two Poly-Hydroxylated Bile Acids Identified as Prognostic Biomarkers in ALGS

Patients with Alagille syndrome (ALGS) with higher levels of the poly-hydroxylated bile acids tauro-2β,3α,7α,12α-tetrahydroxylated bile acid (THBA) and glyco-hyocholic acid (GHCA) had a better prognosis than those with lower concentrations, according to a study currently under review in Hepatology International. The researchers found that the levels of tauro‐2β,3α,7α,12α-THBA (P =.013), and GHCA (P =.036) were…

world data

Real-World Data Registries Show Value for ALGS Clinical Trials

Multicenter databases as contextual comparators to current clinical trials may be advantageous in Alagille syndrome (ALGS) and other rare diseases, according to a new study published in Hepatology Communications. The investigation led by Shneider analyzed a prospective longitudinal cohort of children with cholestasis (LOGIC NCT00571272) that met the inclusion and exclusion criteria from a maralixibat…

surgery

An Adult With ALGS Undergoes Large-for-Size Liver Transplantation

Researchers reported the case of a patient with Alagille syndrome (ALGS) who underwent stenting for severe pulmonary stenosis and received a deceased donor liver transplantation, as published in the International Journal of Surgery. Large-for-size syndrome is a potentially devastating complication of liver transplantation. It is usually reported among pediatric patients and surgeons who often reduce…

operating room

Patients With ALGS and Liver Transplants May Need Immunosuppression Reinitiated

Researchers recently discovered that spontaneous operational tolerance in liver transplants in the pediatric population with conditions like Alagille syndrome (ALGS) is not a permanent state, as published in Liver Transplantation. Therefore, it is essential for patients who are clinically stable off immunosuppression to undergo regular follow-up and laboratory monitoring and surveillance biopsies to rule out…

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