Messenger RNA as a personalized therapy: The moment of truth for rare metabolic diseases

التفاصيل البيبلوغرافية
العنوان: Messenger RNA as a personalized therapy: The moment of truth for rare metabolic diseases
المؤلفون: Karol M, Córdoba, Daniel, Jericó, Ana, Sampedro, Lei, Jiang, María J, Iraburu, Paolo G V, Martini, Pedro, Berraondo, Matías A, Avila, Antonio, Fontanellas
المصدر: International review of cell and molecular biology. 372
سنة النشر: 2022
مصطلحات موضوعية: Adult, Metabolic Diseases, Liver Diseases, Liposomes, Humans, Nanoparticles, RNA, Messenger, Child, Metabolism, Inborn Errors
الوصف: Inborn errors of metabolism (IEM) encompass a group of monogenic diseases affecting both pediatric and adult populations and currently lack effective treatments. Some IEM such as familial hypercholesterolemia or X-linked protoporphyria are caused by gain of function mutations, while others are characterized by an impaired protein function, causing a metabolic pathway blockage. Pathophysiology classification includes intoxication, storage and energy-related metabolic disorders. Factors specific to each disease trigger acute metabolic decompensations. IEM require prompt and effective care, since therapeutic delay has been associated with the development of fatal events including severe metabolic acidosis, hyperammonemia, cerebral edema, and death. Rapid expression of therapeutic proteins can be achieved hours after the administration of messenger RNAs (mRNA), representing an etiological solution for acute decompensations. mRNA-based therapy relies on modified RNAs with enhanced stability and translatability into therapeutic proteins. The proteins produced in the ribosomes can be targeted to specific intracellular compartments, the cell membrane, or be secreted. Non-immunogenic lipid nanoparticle formulations have been optimized to prevent RNA degradation and to allow safe repetitive administrations depending on the disease physiopathology and clinical status of the patients, thus, mRNA could be also an effective chronic treatment for IEM. Given that the liver plays a key role in most of metabolic pathways or can be used as bioreactor for excretable proteins, this review focuses on the preclinical and clinical evidence that supports the implementation of mRNA technology as a promising personalized strategy for liver metabolic disorders such as acute intermittent porphyria, ornithine transcarbamylase deficiency or glycogen storage disease.
تدمد: 1937-6448
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::dce5a98014e26454e0a95889162ed1f6
https://pubmed.ncbi.nlm.nih.gov/36064267
رقم الانضمام: edsair.pmid..........dce5a98014e26454e0a95889162ed1f6
قاعدة البيانات: OpenAIRE