Mutant lysosomal type 5 P-type ATPase ATP13A2 and its use for diagnosis and therapy of neurodegenerative disorders

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This patent discloses mutant forms of the human lysosomal type 5 P-type ATPase protein (ATP13A2), their associated nucleic acid sequences, and their use in diagnosing and treating neurodegenerative disorders, notably Parkinson's disease and dementia. Mutations in ATP13A2 that lead to loss of its normal function are implicated in these diseases. The patent also covers diagnostic methods for detecting these mutations or protein changes, as well as the development of cellular and animal model systems for drug testing and for researching therapies targeting ATP13A2-related disorders.

Use CasesContent extracted from patent full text and abstract with AI.

• Early diagnosis of Parkinson’s disease, Alzheimer’s disease, and other neurodegenerative disorders based on ATP13A2 mutations or protein levels.
• Genetic screening to identify individuals at risk for hereditary forms of neurodegeneration.
• Development of new drugs targeting ATP13A2 pathways by screening candidate compounds in engineered cells or animal models with mutant ATP13A2.
• Creation of diagnostic kits for clinical and research use, enabling detection of ATP13A2 mutations via PCR or immunoassays.
• Personalized medicine approaches by matching therapies to patient’s ATP13A2 mutation status.
• Gene therapy interventions aimed at correcting loss-of-function mutations in ATP13A2.
• Use of specific antibodies for research, diagnosis, or even targeted therapeutics.

BenefitsContent extracted from patent full text and abstract with AI.

• Enables earlier and more precise diagnosis of neurodegenerative disorders, potentially before obvious symptoms appear.
• Facilitates the development of disease models for research, providing tools to study neurodegeneration and test new therapies.
• Targets the root cause of certain hereditary parkinsonism and dementia, opening the door to causal (not just symptomatic) treatments.
• Allows for more targeted drug discovery efforts by focusing on the ATP13A2 pathway.
• Gives rise to a range of diagnostic tools, including kits for the detection of specific ATP13A2 mutations.
• Supports personalized treatment strategies, improving outcomes for patients with specific genetic profiles.
• Provides novel biomarkers and therapeutic targets specific to ATP13A2-linked disease mechanisms.

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Patent Abstract

The present invention provides mutant forms of human lysosomal type 5 P-type ATPase ATP13A2, nucleic acid sequences coding for said mutant ATPase, and their use for diagnosis and therapy of neurodegenerative disorders, especially of parkinsonism and dementia. Test systems for testing candidate active agents for their therapeutic potential in diseases connected with ATP13A2 are also provided.