Novel target for diagnosis and treatment of TDP-43 protein disease

Abstract

The present invention relates to diagnosis and treatment of TDP-43 protein disease. The present invention provides application of a binding agent and / or a regulator of a TDP-43 gene and products and derivatives thereof in diagnostic agents and / or medicaments for the diagnosis, prophylaxis and / or treatment of the TDP-43 protein disease. The binding agent and / or the regulator comprise / comprises theTDP-43 gene, and a binding factor and / or a regulation factor of the products or the derivatives of the TDP-43 gene, such as a regulator that reduces TDP-43 gene expression or a regulator that reducesthe content of the products or the derivatives of the TDP-43 gene, such as mitochondrial proteases LonP1 and related regulatory factors. The invention also provides a kit which comprises the binding agent and / or the regulator and is used for diagnosing, preventing and / or treating the TDP-43 protein disease.

Description

technical field [0001] The invention relates to the technical field of medicine, in particular to a new target for developing diagnostic means and therapeutic drugs for TDP-43 proteinopathies. Background technique [0002] TDP-43 proteinopathies (TDP-43 proteinopathies) are a group of fatal neurodegenerative diseases involving a variety of neurons, including motor neurons. The copper / zinc superoxide dismutase 1 (Cu / Zn SOD1) gene is mutated in patients with familial amyotrophic lateral sclerosis (Amyotrophic Lateral Sclerosis, ALS), and is the first ALS-related gene identified. A dozen more genes were subsequently found to be associated with ALS, including the RNA / DNA-binding proteins TDP-43 and FUS. The full name of TDP-43 is TAR DNA-binding protein 43kDa. Inclusion bodies immunopositive for TDP-43 are detected in many neurological diseases, so pathologically, these diseases can be classified as TDP-43 proteinopathies. These diseases are genetically and clinically heterog...

AI Technical Summary

Problems solved by technology

Interestingly, although more than 40 TDP-43 gene mutations have been identified in ALS-TDP patients, none of the TDP-43 itself has been detected in the vast majority of sporadic or familial FTLD-TDP-43 cases mutation

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