Gene-silencing: 'New class' of medicine reverses disease porphyria

Gene silencing drugs spared patients from the crippling pain caused by porphyria, in a clinical trial.
Source: BBC News | Health | UK Edition - Category: Consumer Health News Source Type: news

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AbstractPurpose of ReviewPorphyrias are a group of eight uncommon-to-rare inherited or acquired metabolic disorders, each caused by enzyme dysfunction at various steps in the heme biosynthetic pathway. Photocutaneous porphyrias are a subset characterized by acute skin pain and/or chronic skin lesions as major features of disease signs and symptoms. Clinical and laboratory features, epidemiology, genetics, pathologic mechanisms, and current and future therapies of the photocutaneous porphyrias are discussed, with emphasis on information reflected in recent literature.Recent FindingsClinical and laboratory investigations of ...
Source: Current Dermatology Reports - Category: Dermatology Source Type: research
'Gene silencing' spares patients the crippling pain of intermittent porphyria Related items fromOnMedica Higher cancer risk from chronic diseases Hepatocellular carcinoma risk, cirrhosis and hepatitis C Kidney disease hits 850 million people Commonest genetic mutation causes much morbidity Prevention screening for one third of population
Source: OnMedica Latest News - Category: UK Health Source Type: news
Erica S. Tarabadkar† and Michi M. Shinohara*† Division of Dermatology, University of Washington, Seattle, WA, United States Skin directed therapies (SDTs) serve important roles in the treatment of early stage cutaneous T-cell lymphoma (CTCL)/mycosis fungoides (MF), as well as managing symptoms and improving quality of life of all stages. There are now numerous options for topical therapies that demonstrate high response rates, particularly in early/limited MF. Phototherapy retains an important role in treating MF, with increasing data supporting efficacy and long-term safety of both UVB and PUVA as ...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Publication date: Available online 6 March 2019Source: Molecular Genetics and MetabolismAuthor(s): Herbert L. Bonkovsky, Natalia Dixon, Sean RudnickAbstractThe acute hepatic porphyrias include four disorders: acute intermittent porphyria [AIP], hereditary coproporphyria [HCP], variegate porphyria [VP], and the rare porphyria due to severe deficiency of ALA dehydratase [ADP]. In the USA, AIP is the most severe and most often symptomatic. AIP, HCP, and VP are due to autosomal dominant genetic abnormalities, in which missense, nonsense, or other mutations of genes of normal hepatic heme biosynthesis, in concert with other env...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with loss of appetite and nausea lasting for 3-4days every 4-6 weeks for last 2 years. He also has stretchable skin and hypermobile joint which he inherited from his mother who never suffered any paroxysmal attack of the kind.  Work up for acute intermittent porphyria, lead poisoning and familial mediterranean fever was negative. A novel harmful sequence change in NLRP12 gene was detected and a diagnosis of NLRP12 associated autoinflammatory syndrome was made. This sequence change with disease has not yet been r...
Source: Mediterranean Journal of Hematology and Infectious Diseases - Category: Hematology Source Type: research
The porphyrias are metabolic disorders due to a defect in the heme biosynthetic pathway. Patients have diverse clinical presentations with neuropathy being frequent in acute intermittent porphyria (AIP). Associated symptoms are abdominal pain and seizures. Three patients presenting with neuropathy were later diagnosed with AIP on the basis of clinical features, erythrocyte porphobilinogen deaminase activity, neuropathic patterns, and nerve conduction studies. Testing for the HMBS genetic mutation confirmed the diagnosis of AIP in 1 patient. The findings from this case series confirm that porphyric neuropathy in AIP is a pr...
Source: Case Reports in Neurology - Category: Neurology Source Type: research
We report two patients with such frequent attacks of AIP, who have been managed with prophylactic heme therapy on a weekly basis. We describe results particularly in relation to symptom control, biochemical findings, health care costs, quality of life, and utilization of resources. During 11-month duration of weekly prophylactic heme infusions, we observed a 100% decrease in acute attacks and inpatient admissions in one subject and a 75% decrease in the other. During this time, we also observed a significant decrease in the number of emergency room visits. The decrease in number of acute attacks requiring hospital admissio...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Publication date: Available online 7 January 2019Source: Molecular Genetics and MetabolismAuthor(s): Victor M. Pulgar, Makiko Yasuda, Lin Gan, Robert J. Desnick, Herbert L. BonkovskyAbstractBackground and aimsAcute intermittent porphyria (AIP) results from a partial deficiency of porphobilinogen deaminase (PBGD). Symptomatic AIP patients, most of whom are women, experience acute attacks characterized by severe abdominal pain and abrupt increases in blood pressure. Here, we characterized the reactivity of mesenteric arteries from male and female AIP mice with ~30% of normal PBGD activity and wild type C57BL/6 mice.MethodsAn...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
ConclusionsIn this study population of acute intermittent porphyria with frequent attacks, most patients had symptoms during and between attacks. In these patients, acute intermittent porphyria appears to have acute exacerbations as well as chronic day-to-day manifestations, and is not just intermittent as its name implies. As a result, patients reported limitations in their ability to function across multiple domains of their lives on a regular basis and not just during acute attacks.
Source: The Patient - Patient-Centered Outcomes Research - Category: International Medicine & Public Health Source Type: research
Rationale: Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation. Patient concerns: A Chinese female patient with very typical AIP symptoms of severe abdominal pain, seizures, hypertension, and tachycardia, accompanied with hyponatremia, anemia, and hyperbilirubinemia. Diagnoses: She was diagnosed as AIP based on positive result of urine porphobilinogen and her clinical syndrome. Interventions: The proband was treated with intravenous glucose (at least 250 g per day) for 4 days. HMBS mutation was investigated in this family by Sanger sequencing. Outcomes: A hetero...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
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