Gisela Gaina

By Emilia Manole, Alexandra E. Bastian, Ionela D. Popescu, Carolina Constantin, Simona Mihai, Gisela F. Gaina, Elena Codrici and Monica T. Neagu

Diagnosis of autoimmune diseases is crucial for the clinician and the patient alike. The immunoassay techniques most commonly used for this purpose are immunohistochemistry, ELISA, and Western blotting. For the detection of more specific biomarkers or the discovery of new ones for diagnostic purposes and as therapeutic targets, microarray techniques are increasingly used, for example, protein microarray, Luminex, and in recent years, surface plasmon resonance imaging. All of these technologies have undergone changes over time, making them easier to use. Similar technologies have been invented but responding to specific requirements for both diagnostic and research purposes. The goals are to study more analytes in the same sample, in a shorter time, and with increased accuracy. The reproducibility and reliability of the results are also a target pursued by manufacturers. In this chapter, we present these technologies and their utility in the diagnosis of immunogenetic diseases.

Part of the book: Immunogenetics

By Gisela Gaina, Magdalena Budisteanu, Emilia Manole and Elena Ionica

Muscular dystrophies are a diverse group of inherited muscle disorders with a wide range of clinical manifestations from a severe form with early onset and early death to adult forms with later onset and minimal clinical manifestation that do not affect life-span. Overlapping clinical symptoms and the multitude of genes that need to be analyzed for an accurate characterization make the diagnosis hard. In next-generation sequencing era, a lot of used assay in molecular diagnostics must be taken into consideration for muscular dystrophy diagnosis. However, for more accurate diagnosis, muscle protein expressions analysis may have prognostic value. In this chapter, we present the most important clinical and laboratory findings in the most common forms of muscular dystrophies and molecular diagnostic approaches for a more accurate diagnosis.

Part of the book: Muscular Dystrophies

By Gisela Gaina

The skeletal muscle is a complex tissue that represents most of the muscle tissue in mammals and plays a key role in health and in the body’s function. It is a heterogeneous tissue whose contractile and metabolic functions depend on type, size, and quality of a large number of proteins. The multitude of proteins, the relationships that exist between them, and functional changes that occur in different muscle pathologies make their investigation to be challenged. In this chapter, current approaches in proteomic studies, its application, specific technical advice, and recent progress of the most important techniques based on antigen-antibody interactions used for the analysis of muscle proteins involved in different muscle diseases are presented.

Part of the book: Muscle Cells

By Ioana Lambrescu, Emilia Manole, Laura Cristina Ceafalan and Gisela Gaina

Muscular dystrophies (MDs) are a complex group of rare neuromuscular disorders caused by genetic mutations that progressively weaken the muscles, resulting in an increasing level of disability. The underlying cause of these conditions consists of mutations in the genes in charge of a person’s muscle composition and functionality. MD has no cure, but medications and therapy can help control symptoms and slow the disease’s progression. Effective treatments have yet to be developed, despite the identification of the genetic origins and a thorough knowledge of the pathophysiological alterations that these illnesses induce. In this scenario, there is an urgent need for novel therapeutic options for these severe illnesses, and drug repositioning might be one feasible answer. In other words, drug repositioning/repurposing is an accelerated method of developing novel pharmaceuticals since the new indication is based on previously accessible safety, pharmacokinetic, and manufacturing data. This is particularly crucial for individuals with life-threatening illnesses such as MDs, who cannot wait for a conventional medication development cycle. This chapter aims to review the challenges and opportunities of drug-repositioning in a variety of MDs to establish novel treatment approaches for these incurable diseases.

Part of the book: Potential Therapeutic Strategies for Muscular Dystrophy

By Gisela Gaina

Part of the book: Potential Therapeutic Strategies for Muscular Dystrophy

By Gisela Gaina

Part of the book: Molecular Diagnostics