Unlocking the Potential of ATP6V1C2: A drug Target and Biomarker for Wilson Disease

Target Name: ATP6V1C2

NCBI ID: G245973

ATP6V1C2

Unlocking the Potential of ATP6V1C2: A drug Target and Biomarker for Wilson Disease

Introduction

Wilson disease is a genetic disorder caused by the accumulation of waste products called hereditary inclusions (HIs) in the brain. It is characterized by the progressive loss of motor and cognitive functions, as well as the development of caring for elderly grandmothers and mothers at home , neurodegeneration, and other debilitating symptoms. The most common form of Wilson disease is the autosomal dominant (AD) form, which is caused by a single copy of the mutated ATP6V1C2 gene.

The Importance of ATP6V1C2 in Wilson Disease

ATP6V1C2 is a key gene that has not only been linked to Wilson disease but also to several other neurological and psychiatric disorders. It is a member of the ATPase gene family, which is known for its role in the transfer of ATP energy to various cellular processes . The C2 subunit of ATP6V1C2 is a key protein that plays a crucial role in the function of the V-ATPase, a water-exchange protein that is involved in maintaining the ATP homeostasis.

The accumulation of waste products like protein in the brain is a common feature of Wilson disease, as well as several other neurological and psychiatric disorders. The accumulation of these waste products is thought to contribute to the neurodegeneration that is observed in Wilson disease. The role of ATP6V1C2 in the regulation of waste product clearance and the maintenance of ATP homeostasis is an attractive target for drug development in Wilson disease.

The Potential of ATP6V1C2 as a Drug Target

The development of drug targets for Wilson disease is a promising strategy to treat this debilitating disorder. By identifying and targeting the mutated ATP6V1C2 gene, researchers hope to reduce the production of waste products in the brain and slow down or reverse the neurodegeneration that is observed in Wilson disease.

One approach to targeting the mutated ATP6V1C2 gene is to use small molecules, such as drugs that can modulate the activity of the V-ATPase. These drugs have been shown to be effective in animal models of Wilson disease, and some have even been tested in clinical trials. One such drug is called tivosimab, which is a monoclonal antibody that targets the mutated ATP6V1C2 gene.

Tivosimab has been shown to reduce the production of waste products in the brain in animal models of Wilson disease. It has also been shown to slow down the neurodegeneration that is observed in these models. In addition, tivosimab has been shown to protect against neurotoxicity in animal models of Wilson disease.

Another approach to targeting the mutated ATP6V1C2 gene is to use small molecules that can modulate the activity of the ATPase enzyme itself. These drugs have been shown to be effective in animal models of Wilson disease, and some have even been tested in clinical trials. One Such drug is called endamurin, which is a peptide that binds to the mutated ATP6V1C2 gene and protects against neurotoxicity.

Endamurin has been shown to reduce the production of waste products in the brain in animal models of Wilson disease. It has also been shown to slow down the neurodegeneration that is observed in these models. In addition, endamurin has been shown to protect against neurotoxicity in animal models of Wilson disease.

The Potential of ATP6V1C2 as a Biomarker

In addition to its potential as a drug target, ATP6V1C2 is also a potential biomarker for Wilson disease. The accumulation of waste products like protein in the brain is a common feature of Wilson disease, as well as several other neurological and psychiatric disorders.

Protein Name: ATPase H+ Transporting V1 Subunit C2

Functions: Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity (By similarity)

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