Bibliographic Details
| Title: |
DETECTING AND TREATING DEMENTIA |
| Document Number: |
20100105034 |
| Publication Date: |
April 29, 2010 |
| Appl. No: |
12/302691 |
| Application Filed: |
May 30, 2007 |
| Abstract: |
This document relates to methods and materials for detecting mutations that can be linked to dementia. For example, methods and materials for detecting one or more mutations within PGRN nucleic acid are provided. This document also provides methods and materials for detecting the level of progranulin expression. In addition, this document relates to methods and materials for treating mammals having a neurodegenerative disorder (e.g., dementia). For example, methods and materials for increasing PGRN polypeptide levels in mammals are provided, as are methods and materials for identifying agents that can be used to increase PGRN polypeptide levels in mammals. |
| Inventors: |
Hutton, Michael L. (Newton, MA, US); Baker, Matthew Colin (Jacksonville, FL, US); Gass, Jennifer Mae (Atlantic Beach, FL, US); Rademakers, Rosa (Ponte Vedra, FL, US); Eriksen, Jason (Houston, TX, US); Pickering-Brown, Stuart M. (Derbyshire, GB); Mackenzie, Ian Reid Alexander (Vancouver, CA); Feldman, Howard (Vancouver, CA); Kumar-Singh, Samir (Edegem, BE); Van Broeckhoven, Christine (Edegem, BE); Cruts, Marc (Antwerpen, BE) |
| Claim: |
1-97. (canceled) |
| Claim: |
98. A method for diagnosing dementia in a mammal suspected of having dementia, wherein said method comprises (a) determining whether or not said mammal comprises PGRN nucleic acid containing a mutation or a reduced level of a PGRN polypeptide, wherein the presence of said PGRN nucleic acid or said reduced level indicates that said mammal has dementia, and (b) diagnosing said mammal as having dementia if said mammal comprises said PGRN nucleic acid or said reduced level and diagnosing said mammal as not having dementia involving PGRN if said mammal lacks said PGRN nucleic acid or said reduced level. |
| Claim: |
99. The method of claim 98, wherein said mammal is a human. |
| Claim: |
100. The method of claim 98, wherein said dementia is frontotemporal dementia. |
| Claim: |
101. The method of claim 98, wherein said method comprises determining whether or not said mammal comprises said PGRN nucleic acid. |
| Claim: |
102. The method of claim 101, wherein said PGRN nucleic acid encodes a sequence of a PGRN polypeptide. |
| Claim: |
103. The method of claim 101, wherein said PGRN nucleic acid is a cis-acting regulatory element that regulates expression of a PGRN polypeptide. |
| Claim: |
104. The method of claim 101, wherein said mutation is a nucleotide addition. |
| Claim: |
105. The method of claim 101, wherein said mutation is a nucleotide deletion. |
| Claim: |
106. The method of claim 101, wherein said mutation is a nucleotide substitution. |
| Claim: |
107. The method of claim 101, wherein said method comprises using an immunological method to determine whether or not said mammal comprises said PGRN nucleic acid. |
| Claim: |
108. The method of claim 101, wherein said mammal is a human, and wherein said mutation causes expression of a PGRN polypeptide having the amino acid sequence set forth in SEQ ID NO:1 while containing at least one mutation in said amino acid sequence. |
| Claim: |
109. The method of claim 108, wherein said PGRN polypeptide is shorter than 593 amino acid residues in length. |
| Claim: |
110. The method of claim 98, wherein said method comprises determining whether or not said mammal comprises a reduced level of a PGRN polypeptide. |
| Claim: |
111. The method of claim 110, wherein said mammal is a human, and wherein said PGRN polypeptide comprises the amino acid sequence set forth in SEQ ID NO:1. |
| Claim: |
112. The method of claim 98, wherein said method comprises providing a medical professional information about the presence or absence of said PGRN nucleic acid or said reduced level. |
| Claim: |
113. The method of claim 112, wherein said method comprises placing said information on a computer database accessible to said medical professional. |
| Claim: |
114. A method for classifying a mammal as being at risk of developing dementia, wherein said method comprises (a) determining whether or not a mammal comprises PGRN nucleic acid containing a mutation or a reduced level of a PGRN polypeptide, wherein the presence of said PGRN nucleic acid or said reduced level indicates that said mammal is at risk of developing dementia, and (b) classifying said mammal as being at risk of developing dementia if said mammal comprises said PGRN nucleic acid or said reduced level and diagnosing said mammal as not being at risk of developing dementia involving PGRN if said mammal lacks said PGRN nucleic acid or said reduced level. |
| Claim: |
115. The method of claim 114, wherein said mammal is a human. |
| Claim: |
116. The method of claim 114, wherein said dementia is frontotemporal dementia. |
| Claim: |
117. The method of claim 114, wherein said method comprises determining whether or not said mammal comprises said PGRN nucleic acid. |
| Claim: |
118. The method of claim 117, wherein said PGRN nucleic acid encodes a sequence of a PGRN polypeptide. |
| Claim: |
119. The method of claim 117, wherein said PGRN nucleic acid is a cis-acting regulatory element that regulates expression of a PGRN polypeptide. |
| Claim: |
120. The method of claim 117, wherein said mutation is a nucleotide addition. |
| Claim: |
121. The method of claim 117, wherein said mutation is a nucleotide deletion. |
| Claim: |
122. The method of claim 117, wherein said mutation is a nucleotide substitution. |
| Claim: |
123. The method of claim 117, wherein said method comprises using an immunological method to determine whether or not said mammal comprises said PGRN nucleic acid. |
| Claim: |
124. The method of claim 117, wherein said mammal is a human, and wherein said mutation causes expression of a PGRN polypeptide having the amino acid sequence set forth in SEQ ID NO:1 while containing at least one mutation in said amino acid sequence. |
| Claim: |
125. The method of claim 124, wherein said PGRN polypeptide is shorter than 593 amino acid residues in length. |
| Claim: |
126. The method of claim 114, wherein said method comprises determining whether or not said mammal comprises a reduced level of a PGRN polypeptide. |
| Claim: |
127. The method of claim 126, wherein said mammal is a human, and wherein said PGRN polypeptide comprises the amino acid sequence set forth in SEQ ID NO:1. |
| Claim: |
128. The method of claim 114, wherein said method comprises providing a medical professional information about the presence or absence of said PGRN nucleic acid or said reduced level. |
| Claim: |
129. The method of claim 128, wherein said method comprises placing said information on a computer database accessible to said medical professional. |
| Current U.S. Class: |
435/6 |
| Current International Class: |
12; 01 |
| Accession Number: |
edspap.20100105034 |
| Database: |
USPTO Patent Applications |
