Title:
METHOD FOR DIAGNOSING ALZHEIMER'S DISEASE BY USING ANKS1A PROTEIN VARIANT OR POLYNUCLEOTIDE ENCODING SAME
Document Type and Number:
WIPO Patent Application WO/2024/038967
Kind Code:
A1
Abstract:
An ANKS1A-A355D protein variant is found in Alzheimer's disease patients, and unlike a normal ANKS1A protein, is unable to induce the cell membrane expression of an LRP1 receptor, and thus is unable to efficiently remove toxic proteins such as an amyloid beta peptide. Therefore, provided is a method for providing early diagnosis information on the onset of Alzheimer's disease by confirming the expression level of an ANKS1A-A355D protein variant or detecting the presence or absence of a gene encoding the ANKS1A-A355D protein variant. Also, provided is a composition comprising an agent for detecting an ANKS1A-A355D protein variant or a polynucleotide encoding same.
Inventors:
PARK SOO CHUL (KR)
PARK SUN AH (KR)
SEO JIN SOO (KR)
PARK SUN AH (KR)
SEO JIN SOO (KR)
Application Number:
PCT/KR2022/019003
Publication Date:
February 22, 2024
Filing Date:
November 28, 2022
Export Citation:
Assignee:
SOOKMYUNG WOMEN’S UNIV INDUSTRY ACADEMIC COOPERATION FOUNDATION (KR)
UNIV AJOU IND ACADEMIC COOP FOUND (KR)
DAEGU GYEONGBUK INST SCIENCE & TECH (KR)
UNIV AJOU IND ACADEMIC COOP FOUND (KR)
DAEGU GYEONGBUK INST SCIENCE & TECH (KR)
International Classes:
G01N33/68; C07K14/47; C12Q1/6883
Foreign References:
| US20120283114A1 | 2012-11-08 | |||
| KR20150139231A | 2015-12-11 | |||
| KR20190133394A | 2019-12-03 |
Other References:
LI HONGDONG, HONG GUINI, LIN MENGNA, SHI YIDAN, WANG LILI, JIANG FENGLE, ZHANG FAN, WANG YUHANG, GUO ZHENG: "Identification of molecular alterations in leukocytes from gene expression profiles of peripheral whole blood of Alzheimer’s disease", SCIENTIFIC REPORTS, NATURE PUBLISHING GROUP, US, vol. 7, no. 1, 25 October 2017 (2017-10-25), US , pages 14027, XP093140334, ISSN: 2045-2322, DOI: 10.1038/s41598-017-13700-w
RYU HYUNCHUL, LEE HAERYUNG, LEE JIYEON, NOH HYUNA, SHIN MIRAM, KUMAR VIJAY, HONG SEJEONG, KIM JAEBONG, PARK SOOCHUL: "The molecular dynamics of subdistal appendages in multi-ciliated cells", NATURE COMMUNICATIONS, NATURE PUBLISHING GROUP, UK, vol. 12, no. 1, 27 April 2021 (2021-04-27), UK, pages 612, XP093140338, ISSN: 2041-1723, DOI: 10.1038/s41467-021-20902-4
RYU HYUNCHUL, LEE HAERYUNG, LEE JIYEON, NOH HYUNA, SHIN MIRAM, KUMAR VIJAY, HONG SEJEONG, KIM JAEBONG, PARK SOOCHUL: "The molecular dynamics of subdistal appendages in multi-ciliated cells", NATURE COMMUNICATIONS, NATURE PUBLISHING GROUP, UK, vol. 12, no. 1, 27 April 2021 (2021-04-27), UK, pages 612, XP093140338, ISSN: 2041-1723, DOI: 10.1038/s41467-021-20902-4
Attorney, Agent or Firm:
KIM, Ji Woo (KR)
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