Identifying subjects who have or are at risk for developing Hereditary Spastic Paraplegia by detecting the presence or absence of one or more variations in the atlastin gene or treating HSP by administering atlastin
Inventors
Assignees
US Department of Veterans Affairs
Publication Number
US-7582425-B2
Publication Date
2009-09-01
Expiration Date
2022-09-12
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Abstract
The present invention relates to methods and compositions of a novel gene and the peptide encoded by the gene. Mutations in the gene, named atlastin, are factors in the disease Hereditary Spastic Paraplegia and related disorders. The present invention will be used for the in the research, diagnosis and treatment of these disabling diseases.
Core Innovation
The invention concerns compositions and methods involving a novel gene named "atlastin" and its translated peptide product, which are associated with Hereditary Spastic Paraplegia (HSP) and related disorders. Atlastin mutations are identified as causative factors in HSP, enabling the development of improved research, diagnostic, and treatment tools for these progressive and disabling diseases.
HSP is a group of inherited degenerative spinal cord disorders characterized by progressive lower extremity weakness and spasticity, often resulting in mobility impairments and sometimes requiring wheelchairs. Currently, diagnosis relies on excluding other disorders and observing family history, which can lead to misdiagnosis. Existing molecular genetic testing is limited to certain genes in specialized labs, highlighting the need for accurate diagnostic tests and novel treatments for HSP.
The present invention provides isolated nucleic acids encoding atlastin or fragments thereof, including native and mutant sequences. It offers methods for diagnosing HSP by detecting variations in the atlastin gene and for treating HSP by administering atlastin or its variants. Moreover, the invention contemplates the use of atlastin in screening assays to identify compounds that modulate its function, generation of antibodies against atlastin, production of transgenic animals expressing atlastin sequences, and utilization of atlastin gene sequences for prenatal testing and genetic counseling.
Claims Coverage
The patent includes one independent claim focusing on a method for detecting mutations in the atlastin gene from a human sample.
Method of detecting mutations in the atlastin gene from a human nucleic acid sample
A method to determine the nucleotide sequence of the atlastin gene from a nucleic acid sample obtained from a human subject, followed by comparing this sequence with a wild-type control sequence (SEQ ID NO:1) to identify mutations.
The claim broadly covers a method for mutation detection in the atlastin gene in human samples by sequence analysis and comparison to a known wild-type sequence, enabling identification of any sequence differences indicative of mutations.
Stated Advantages
Enables accurate diagnosis of Hereditary Spastic Paraplegia by identifying mutations in the atlastin gene.
Facilitates development of effective treatments for HSP and related neurological disorders.
Provides compositions and methods for screening compounds that modulate atlastin function, aiding drug discovery.
Allows genetic counseling and prenatal testing for individuals at risk of developing HSP.
Documented Applications
Use in research, diagnosis, and treatment of Hereditary Spastic Paraplegia and related diseases.
Genetic screening of individuals for presence or risk of HSP by detecting atlastin gene variations.
Screening assays utilizing atlastin or cells expressing atlastin for identifying therapeutic compounds.
Generation of antibodies to atlastin for diagnostic immunoassays and affinity purification.
Gene therapy approaches involving administration of atlastin nucleic acids to treat HSP.
Production of transgenic animals expressing wild-type or mutant atlastin to study disease mechanisms and test treatments.
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