Genetic markers for diagnosis and pathogenesis of Alzheimer's disease.
Alzheimer's disease (AD) is the most common form of dementia in the elderly and represents an important and increasing clinical challenge in terms of diagnosis and treatment. Mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) are responsible for early-onset autosomal dominant AD. The ε4 allele of the apolipoprotein E (APOE) gene has been recognized as a major genetic risk factor for the more common, complex, late-onset AD. Fibrillar deposits by phosphorylated tau are also a key pathological feature of AD. The retromer complex also has been reported to late-onset AD. More recently, genome-wide association studies (GWASs) identified putative novel candidate genes associated with late-onset AD. Lastly, several studies showed that circulating microRNAs (miRNAs) in the cerebrospinal fluid (CSF) and blood serum of AD patients can be used as biomarkers in AD diagnosis. This review addresses the advances and challenges in determining genetic and diagnostic markers for complex AD pathogenesis.
Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan, Republic of Korea; Department of Neurology, Hyungju Hospital, Yangsan-si, Gyeongsangnam-do, Republic of Korea.
Dong Hee
DH
Kim
Department of Psychiatry, Gyeongsangnam Provincial Yangsan Hospital for the Elderly, Yangsan-si, Gyeongsangnam-do, Republic of Korea.
Seung Hyeon
SH
Yeo
Department of Biological Science, College of Natural Sciences, Don-A University, Busan, Republic of Korea.
Jeong-Min
JM
Park
Department of Biological Science, College of Natural Sciences, Don-A University, Busan, Republic of Korea.
Ji Ye
JY
Choi
Department of Biological Science, College of Natural Sciences, Don-A University, Busan, Republic of Korea.
Tae-Hee
TH
Lee
Department of Biological Science, College of Natural Sciences, Don-A University, Busan, Republic of Korea.
Soon Yong
SY
Park
Department of Parasitology and Genetics, Busan, Republic of Korea.
Mee Sun
MS
Ock
Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan, Republic of Korea.
Jungwoo
J
Eo
Department of Biological Sciences, College of Natural Sciences, Pusan National University, Busan, Republic of Korea. Electronic address: khs307@pusan.ac.kr.
Heui-Soo
HS
Kim
Department of Parasitology and Genetics, Busan, Republic of Korea; Institute for Medical Science, Kosin University College of Medicine, Busan, Republic of Korea. Electronic address: hcha@kosin.ac.kr.
Hee-Jae
HJ
Cha
D000544:Alzheimer Disease / Q000175:diagnosis* / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases / Q000235:genetics / Q000378:metabolism; D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D000818:Animals; D001057:Apolipoproteins E / Q000235:genetics / Q000378:metabolism; D005819:Genetic Markers; D055106:Genome-Wide Association Study; D006801:Humans; D035683:MicroRNAs / Q000235:genetics; D046912:Multiprotein Complexes / Q000378:metabolism; D053763:Presenilins / Q000235:genetics / Q000378:metabolism; D011485:Protein Binding; D016875:tau Proteins / Q000235:genetics / Q000378:metabolism
D016564:Amyloid beta-Protein Precursor; D001057:Apolipoproteins E; D005819:Genetic Markers; D035683:MicroRNAs; D046912:Multiprotein Complexes; D053763:Presenilins; D016875:tau Proteins; D053829:Amyloid Precursor Protein Secretases
Alzheimer's disease (AD); Diagnosis; Genetic markers; Pathogenesis