OHSU to participate in clinical trial for potentially 'life-transforming' drug

Oregon Health&Science University is part of a clinical trial for a drug approved this week for a rare and serious genetic disorder called phenylketonuria, or PKU. The Food and Drug Administration approved Palynziq, a daily enzyme injection for adults with PKU. The disease affects about 1 in 10,000 to 15,000 people in the U.S. All newborns are screened for the disease, among others, using a “heel stick” blood draw within 24 to 48 hours after birth. Pat ients are unable to break down an amino…
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news

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asi Andrea Soltysova The molecular genetics of well-characterized inherited diseases, such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene, is often complicated by the identification of many novel variants, often with no obvious impact on the associated disorder. To date, more than 1100 PAH variants have been identified of which a substantial portion have unknown clinical significance. In this work, we study the functionality of seven yet uncharacterized PAH missense variants p.Asn167Tyr, p.Thr200Asn, p.Asp229Gly, p.Gly239Ala, p.Ph...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
Abstract Protein folding is the process by which a polypeptide chain acquires its functional, native 3D structure. Protein misfolding, on the other hand, is a process in which proteins fails to fold into its native functional conformation. This misfolding of proteins may lead to precipitation of number of serious diseases such as Cystic fibrosis (CF), Alzheimer's disease (AD), Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) etc. Protein quality-control (PQC) systems, consisting of molecular chaperones, proteases and regulatory factors, help in protein folding and prevent its aggregation. At the s...
Source: Current Protein and Peptide Science - Category: Biochemistry Authors: Tags: Curr Protein Pept Sci Source Type: research
Phenylalanine hydroxylase (PAH) is a key enzyme in the catabolism of phenylalanine, and mutations in this enzyme cause phenylketonuria (PKU), a genetic disorder that leads to brain damage and mental retardation if untreated. Some patients benefit from supplementation with a synthetic formulation of the cofactor tetrahydrobiopterin (BH4) that partly acts...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
Publication date: Available online 3 June 2019Source: Molecular Genetics and MetabolismAuthor(s): Francesca Nardecchia, Filippo Manti, Sabrina De Leo, Claudia Carducci, Vincenzo LeuzziAbstractBackgroundPhenylketonuria (PKU) is due to the deficit of the enzyme phenylalanine hydroxylase, the first step of dopamine synthesis. If not early treated the disease results in severe neurological impairment. Minor neurological signs have been reported in early treated PKU (ETPKU) subjects. Prolactin level is affected by (and reflects) brain dopamine availability. Object of the study was to assess the occurrence, age at onset, distrib...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
ACS Applied Materials&InterfacesDOI: 10.1021/acsami.9b05431
Source: ACS Applied Materials and Interfaces - Category: Materials Science Authors: Source Type: research
Journal Name: Journal of Pediatric Endocrinology and Metabolism Issue: Ahead of print
Source: Journal of Pediatric Endocrinology and Metabolism - Category: Endocrinology Source Type: research
In this study, the spectrum of PAH variants in 1083 Chinese PKU patients was analyzed. Then 20 variants (p.L52F, p.R86P, p.L128P, p.L142P, p.D163N, p.C203G, p.E214G, p.F260L, p.M276T, p.L311R, p.P314A, p.L364F, p.Q375H, p.F382I, p.A395S, p.V412D, p.E108*, p.C203*, p.C284* and p.E353*) were expressed in COS-7 cells. The residual activities and protein expression levels were detected by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry (LC-ESI-MS/MS) and Western blotting, respectively. We compared the results of the phenotypic prediction based on APV and PAH activity respectively, and fu...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
Publication date: Available online 8 May 2019Source: Clinica Chimica ActaAuthor(s): Andraz Smon, Vanja Cuk, Jernej Brecelj, Simona Murko, Urh Groselj, Mojca Zerjav Tansek, Tadej Battelino, Barbka Repic LampretAbstractObjectivesPrecise quantification of amino acids (AAs) is mandatory for successful diagnosis and monitoring of patients with metabolic diseases. We compared ion-exchange chromatography (IEC) and liquid chromatography with tandem mass spectrometry (LC-MS/MS), the two methods most commonly used in clinical laboratories for the quantification of AAs in physiological samples.Design &methods123 apparently health...
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
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