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Volume 27, Suppl. A, July 2005, Pages 1-573


SUMMARY
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INTRODUCTION

EPIDEMIOLOGY OF CNS DISORDERS AND DEMENTIA

Age- and sex-related patterns of dementia and memory complaints

NOSOLOGICAL CONSIDERATIONS AND ETIOPATHOGENESIS OF AGE-RELATED DISORDERS

MOLECULAR BASIS OF AGING

GENETICS OF ALZHEIMER's DISEASE

Amyloid precursor protein (APP) gene (21q21.2-121)

Presenilin-1 (PS1) (14q24.3) and -2 (PS2) (1q31-q42) genes

- Age- and sex-related differences in the distribution of presenilin genotypes

Apolipoprotein E (APO) gene (19q13.2)

- APOE in Alzheimer's disease

Increased frequency of APOE-4 and protective effect of APOE-2 in Alzheimer's disease

Association of APOE-4 with a lowering of the age of onset and fast cognitive decline

Association of APOE with BAP and tau in Alzheimer's disease pathology

CNS pathology-associated risk factors

- APOE and lipid metabolism

- The APOE genotype in the Spanish population

- The APOE genotype in Alzheimer's disease and other CNS disorders

Vascular dementia and cerebrovascular disorders

Other dementias and CNS disorders

- Down's syndrome

- Schizophrenia

- Multiple sclerosis

- Head injury

- Parkinson's disease

- Prion disease

- Other diseases

ALZHEIMER's DISEASE-RELATED POLYMORPHIC VARIANTS AND DEMENTIA-ASSOCIATED GENES

Microtubule-associated protein tau (MAPT) gene (17q21.1)

Alpha-1-antichymotrypsin (αACT), or SERPINA3, gene (14q24.3-q32.1)

Butyrylcholinesterase (BCHE) gene (3q26.1-q26.2)

Alpha-2-macroglobulin (α2M) gene (12p13.3-p12.3)

Low-density lipoprotein receptor-related protein 1 (LRP1) gene (12q13-q14)

Oxidized low-density lipoprotein receptor 1 (OLR1) gene (12p12-p13)

Very-low-density lipoprotein receptor (VLDLR) gene (9p24)

Lipoprotein lipase (LPL) gene (8p22)

Type 5 Alzheimer's disease-linked chromosome 12 (AD5) gene (12p11.23-q13.12) and transcription factor CP2 (TFCP2) gene (12q13)

Bleomycin hydrolase (BLMH) gene (17q11.2)

FOS gene (14q24.3) 118

Interleukin-1 (IL1) gene (2q14)

Interleukin-6 (IL6) gene (7p21)

Tumor necrosis factor (TNF) gene (6p21.3)

Nitric oxide synthase 3 (NOS3) gene (7q36)

Angiotensin I-converting enzyme (ACE) gene (17q23)

β-Site amyloid β-A4 precursor protein-cleaving enzyme 1 (BACE1) gene (11q23.3)

Cystatin C 3 (CST3) gene (20p11.2)

Methylenetetrahydrofolate reductase (MTHFR) gene (1p36.3)

Insulin-degrading enzyme (IDE) gene (10q23-q25)

Type 2 Alzheimer's disease (AD2) gene (19cen-q13.2)

Type 6 Alzheimer's disease (AD6), or PLAU, gene (10q24)

Type 7 Alzheimer's disease (AD7) gene (10p13)

AD7CNTP gene (1p36) 141

Type 8 Alzheimer's disease (AD8) gene (20p)

Type 9 Alzheimer's disease (AD9) gene (19p13.2)

Glycogen synthase kinase 3 alpha (GSK3α) and 3 beta (GSK3β) genes (3q13.3)

Nonspecific familial dementia 1 (DMT1) gene (3p11.1-q11.2)

CYP46A1 gene (14q32.1)

CYP27 gene (2q33-qter)

Alpha-synuclein (SNCα) gene (4q21.3-q22)

Acyl-CoA:cholesterol acyltransferase 1 (SOAT1) gene (1q25)

Prion protein (PRNP) gene (20pter-p12) 151

- The PRNP Met129Val polymorphism in Alzheimer's disease and prion disorders

- Prion biology and prion diseases

Class I major histocompatibility complex (HLA-A2) gene (6p21.3)

OTHER GENES POTENTIALLY ASSOCIATED WITH ALZHEIMER's DISEASE AND/OR NEURODEGENERATION

APH1A gene (Chr. 1)

APH1B gene (Chr. 15)

APLP1 gene (19cen-q13.2)

APLP2 gene (11q24)

APPL1 gene (19q31-qter)

APPBP1 gene (16q22)

APPBP2 gene (17q21-q23)

APBA1 gene (9q13-q21.1)

APBA2 gene (15q11-q12)

APBA3 gene (19p13.3)

APBB1 gene (11p15)

APBB2 gene (Chr. 4)

APBB3 gene (5q31)

THOP1 gene (19p13.3)

BACE2 gene (21q22.3)

BBP gene (1p31.3)

LRP1B gene (2q21.2)

Nicastrin (NCSTN) gene (1q23)

PEN2 gene (19q13.12)

Anterior pharynx defective 1 (APH1) gene (Chr. 1)

Neprilysin, or membrane metalloendopeptidase (MME), gene (3q21-q27)

ADAM17, or TACE, gene (2p25)

CAV1 and CAV2 genes (7q31.1-q31.2)

NPC2 gene (14q24.3)

PIN1 gene (19p13)

CASP3gene (4q34)

BCL2-associated X protein (BAX) gene (19q13.3-q13.4)

CDK5R1 gene (17q11.2)

Humanin (HN) gene

Saitohin (STH) gene (17q21.1)

AGER gene (6p21.3)

S100α (1q21) and S100β (21q22.2-q22.3) genes

IAPP gene (12p12.3-p12.1)

BDNF gene (11p13)

Septin 1 (SEPT1) gene (16p11.1)

Intercellular adhesion molecule 1 (ICAM1) gene (19p13.3-p13.2)

Complement component C1r gene (12p13)

N-Methyl-d-aspartate (NMDA) receptor genes

- NMDAR2B gene (12p12)

Quinolinate phosphoribosyltransferase (QPRT) gene (16p11.2)

Paraoxonase 1 (PON1) gene (7q21.3)

Choline acetyltransferase (CHAT) gene (10q11.2)

CRH gene (8q13)

Catalase (CAT) gene (11p13)

Tissue inhibitor of metalloproteinase 1 (TIMP1) gene (Xp11.3-p11.23)

Estrogen receptor 1 (ESR1) gene (6q25.1)

Neuronal nicotinic acetylcholine receptor (nAChR) genes (CHRNs)

Hemochromatosis (HFE) gene (6p21.3)

Serotonin receptor (5HTR) genes (HTRs)

Tryptophan hydroxylase (TPH) gene (11p15.3-p14)

Serotonin transporter (SERT) gene (17q11.1-q12)

Tumor protein p53 (TP53) gene (17p13.1)

Cell division cycle 2 (CDC2) gene (10q21.1)

Androgen receptor (AR) gene (Xq11-q12)

Cathepsin (CTS) genes

- Cathepsin B (CTSB) gene (8p22)

- Cathepsin D (CTSD) gene (11p15.5)

- Cathepsin G (CTSG) gene (14q1.2)

Drebrin E (DBN1) gene (5q35.3)

DSCR1 gene (21q22.1-q22.2)

FALZ gene (17q24)

Methionine synthase reductase (MTRR) gene (5p15.3-p15.2)

Myeloperoxidase (MPO) gene (17q23.1)

Macrophage scavenger receptor 1 (MSR1) gene (8p22)

Interleukin-4 (IL4) gene (5q31.1)

Transforming growth factor beta 1 (TGFβ1) gene (19q3.1)

Monoamine oxidase A (MAOA) and B (MAOB) genes (Xp11.23)

Dopamine receptor (DRD) genes

- DRD1 gene (5q35.1)

- DRD2 gene (11q23)

- DRD3 gene (3q13.3)

- DRD4 gene (11p15.5)

- DRD5 gene (4p16.1-p15.3)

Dopamine transporter (DAT1), or SLC6A3, gene (5p15.3)

DβH gene (9q34)

Transferrin (TF) gene (3q21)

Dishevelled 1 (DVL1) gene (1p36)

Angiotensin (AGT) (1q42-q43) and renin (REN) (1q32) genes

Dihydrolipoamide S-succinyltransferase (DLST) gene (14q24.3)

Apolipoprotein C-I (APOC1) gene (19q13.2)

Calpastatin (CAST) gene (5q15-q21)

Calsenilin (CSEN) gene (2q21.1)

Phenylethanolamine N-methyltransferase (PNMT) gene (17q21-q22)

Adrenergic receptor (ADR) genes

Kallikrein (KLK) gene family (19q13)

KLK6 gene (19q13.3)

Glutathione transferase (GST) genes

APCS gene (1q21-q23)

Serum amyloid A1 (SAA1) gene (11p15.1)

Alcohol dehydrogenase (ADH) gene family (4q21-q25)

Type II hydroxyacyl-CoA dehydrogenase (HADH2) gene (Xp11.2)

Aldehyde dehydrogenase (ALDH) gene family

WW domain-containing oxidoreductase (WWOX) gene (16q23.3-q24.1)

Reticulon (RTN) gene family

WNT- and β-catenin signaling-related genes

- WNT1 (member 1 of the Wingless-type MMTV integration site family; oncogene INT1 and murine mammary tumor virus integration site 1) gene (12q12-q13)

- WNT2 (member 2 of the Wingless-type MMTV integration site family; oncogene INT1-like 1 [INT1L1]; INT1-related protein [IRP]) gene (7q31)

- WNT2B (member 2B of the Wingless-type MMTV integration site family; homolog of Xenopus XWNT2; formerly member 13 of the Wingless-type MMTV integration site family [WNT13]) gene (1p13)

- WNT3 (member 3 of the Wingless-type MMTV integration site family; oncogene INT4; murine mammary tumor virus integration site 4) gene (17q21)

- WNT3A (member 3A of the Wingless-type MMTV integration site family) gene (1q42)

- WNT4 (member 4 of the Wingless-type MMTV integration site family) gene (1p35)

- WNT5A (member 5A of the Wingless-type MMTV integration site family; oncogene WNT5A) gene (3p21-p14)

- WNT5B (member 5B of the Wingless-type MMTV integration site family) gene (Chr. 12)

- WNT6 (member 6 of the Wingless-type MMTV integration site family) gene (2q35)

- WNT7A (member 7A of the Wingless-type MMTV integration site) gene (3p25)

- WNT7B (member 7B of the Wingless-type MMTV integration site family) gene (22q13)

- WNT8A (member 8A of the Wingless-type MMTV integration site family) gene

- WNT8B (member 8B of the Wingless-type MMTV integration site family) gene (10q24)

- WNT10A (member 10A of the Wingless-type MMTV integration site family) gene (2q35)

- WNT10B (member 10B of the Wingless-type MMTV integration site family) gene (12q13)

- WNT11 (member 11 of the Wingless-type MMTV integration site family) gene (11q13.5)

- WNT14 (member 14 of the Wingless-type MMTV integration site family) gene (1q42)

- WNT15 (member 15 of the Wingless-type MMTV integration site family) gene (17q21)

- WNT16 (member 16 of the Wingless-type MMTV integration site family) gene

- WISP1 (WNT1-inducible signaling pathway protein 1) gene (8q24.1-q24.3)

- WISP2 (WNT1-inducible signaling pathway protein 2) gene (20q12-q13)

- WISP3 (WNT1-inducible signaling pathway protein 3) gene (6q22-q23)

- WIF1 (WNT inhibitory factor) gene (Chr. 12)

- WRCH1 (WNT1-responsive CDC42 homolog) gene (Chr. 1)

- CDH1 (cadherin 1; epithelial cadherin [ECAD]; E-cadherin [CDHE]; uvomorulin [UVO]; epithelial calcium-dependent adhesion protein) gene (16q22.1)

- CTNNβ1 (CTNNB1; β1-catenin; β-cadherin-associated protein [CTNNβ, CTNNB]) gene (3p22-p21.3) 236

- AXIN1 (axis inhibitor 1; AXIN; homolog of mouse fused) gene (16p13.3)

- AXIN2 (axis inhibitor 2; homolog of mouse conductin) gene (17q24)

- LEF1 (lymphoid enhancer-binding factor 1; 1-alpha T cell-specific transcription factor [TCF1α] gene (4q23-q25)

- LRP5 (low-density lipoprotein receptor-related protein 5; low-density lipoprotein receptor-related protein 7 [LRP7]; LR3) gene (11q13.4)

- LRP6 (low-density lipoprotein-related protein 6) gene (12p13.3-p11.2)

- GSK3α (glycogen synthase 3 alpha) (19q13.1-q13.2) and GSK3β (glycogen synthase kinase 3 beta) (3q13.3-q21) genes

- BCL9 (B-cell CLL/lymphoma 9; homolog of Drosophila Legless [LGS]) gene (1q21)

- APC (adenomatous polyposis of the colon; familial adenomatous polyposis [FAP]; familial polyposis of the colon [FPC]; Gardner's syndrome [GS]) gene (5q21-q22)

- Secreted Frizzled-related protein (SFRP) gene family

SFRP1 gene (8p12-p11.1)

SFRP2 gene (4q31.3)

SFRP3 gene (2q31-q33)

SFRP4 gene (7p14-p13)

SFRP5 gene (10q24.1)

- Homologs of Drosophila Frizzled (FZD) gene family

FZD1 gene (7q21)

FZD2 gene (17q21.1)

FZD3 gene (8p21)

FZD4 gene (11q14-q21)

Other FZD genes

- Dickkopf (DKK) gene family

- CHIBBY (CBY) gene (22q12-q13)

- Other genes potentially associated with WNT signaling HSPG2 gene (1p36.1)

Tumor necrosis factor receptor superfamily, member 5 (TNFRSF5), or CD40, gene (20q12-q13.2)

ZFYVE9 (SARA or MADHIP) gene (1p32.3)

cAMP response element-binding protein 1 (CREB1) gene (2q32.3-q34)

PPAR gene family

- PPARα gene (22q12-q13.1)

- PPARδ gene (6p21.2-p21.1)

- PPARγ gene (3p25)

- PPARBP gene (17q12)

- PPAR-related drugs

ATP-binding cassette, subfamily A, member 1 (ABCA1) gene (9q22-q31)

Transglutaminase (TGM) gene family

THE UBIQUITIN-PROTEASOME SYSTEM

SUMOylation

The ubiquitin-proteasome system in neurodegeneration

Genes associated with the ubiquitin-26S proteasome system

- Ubiquitin

- Ubiquitin-activating enzyme (UBA) genes

UBE1 (ubiquitin-activating enzyme 1; BN75 temperature sensitivity complementing; GXP1; tsA1S9; A1S9T; A1S9) gene (Xp11.23)

UBE1C (ubiquitin-activating enzyme E1C; homolog of S. cerevisiae ubiquitin-activating enzyme 3 [UBA3]) gene UBE1L (ubiquitin-activating enzyme E1-like) gene (3p21)

UBE1Y (Y-linked ubiquitin-activating enzyme) gene - Ibiquitin-conjugating enzyme (UBC) genes

UBE2A (ubiquitin-conjugating enzyme E2A; homolog of yeast RAD6 type A [RAD6A]; human homolog of rad6a [HHR6A]) gene (Xq24-q25)

UBE2B (ubiquitin-conjugating enzyme E2B; homolog of yeast RAD6 type B [RAD6B]; HHR6B) gene (5q23-q31)

UBE2C (ubiquitin-conjugating enzyme E2C; ubiquitin-conjugating enzyme UBCH10) gene (Chr. 20)

UBE2D1 (ubiquitin-conjugating enzyme E2D1; homolog of S. cerevisiae UBC4/5; ubiquitin-conjugating enzyme UBCH5A; UBCH5) gene (10q11.2-q21)

UBE2D2 (ubiquitin-conjugating enzyme E2D2; homolog of S. cerevisiae UBC4/5; ubiquitin-conjugating enzyme UBCH5B; UBC4) gene

UBE2D3 (ubiquitin-conjugating enzyme E2D3; homolog of S. cerevisiae UBC4/5; ubiquitin-conjugating enzyme UBCH5C) gene

UBE2E1 (ubiquitin-conjugating enzyme E2E1; ubiquitin-conjugating enzyme UBCH6) gene

UBE2E2 (ubiquitin-conjugating enzyme E2E2) gene (3p24.2)

UBE2E3 (ubiquitin-conjugating enzyme E2E3; ubiquitin-conjugating enzyme UBCH9) gene (2q32.1)

UBE2G (ubiquitin-conjugating enzyme E2G; homolog of C. elegans UBC7) gene (Chr. 17)

UBE2G2 (ubiquitin-conjugating enzyme E2G2; homolog of S. cerevisiae UBC7) gene (21q22.3)

UBE2H (ubiquitin-conjugating enzyme E2H; homolog of yeast ubiquitin-conjugating enzyme UBC8) gene (7q32)

UBE2I (ubiquitin-conjugating enzyme E2I; homolog of yeast ubiquitin-conjugating enzyme UBC9) gene (16p13.3)

UBE2L1 (ubiquitin-conjugating enzyme E2L1; ubiquitin-conjugating enzyme L-UBC [UBCL]; homolog of S. cerevisiae UBC4) gene (14q24.3)

UBE2L3 (ubiquitin-conjugating enzyme E2L3; ubiquitin-conjugating enzyme UBCH7) gene (22q11.2-q13.1)

UBE2M (ubiquitin-conjugating enzyme E2M; homolog of S. cerevisiae ubiquitin-conjugating enzyme 12 [UBC12] gene

UBE2N (ubiquitin-conjugating enzyme E2N; homolog of S. cerevisiae ubiquitin-conjugating enzyme 13 [UBC13]; homolog of Drosophila Bendless [UBCHBEN] gene

UBE2V1 (ubiquitin-conjugating enzyme E2, variant 1; UEV1; UEV1A; CROC1) gene (20q13.2)

UBE2V2 (ubiquitin-conjugating enzyme E2, variant 2; UEV2; 1-a,25-dihydroxyvitamin D3-inducible transcript 1 [DDVIT1]; enterocyte differentiation-promoting factor 1 [EDPF1]; homolog of S. cerevisiae methyl methanesulfonate sensitive 2 [MMS2]) gene

HIP2 (huntingtin-interacting protein 2; ubiquitin-conjugating enzyme E2-25K) gene (4p14)

- Ubiquitin ligase (E3) genes

UBE3A (ubiquitin protein ligase E3A; human papillomavirus E6-associated protein [E6AP] gene (15q11-q13)

UBE3B (ubiquitin protein ligase E3B) gene (12q21.1-q23)

UBE4A (ubiquitination factor E4A; homolog of S. cerevisiae UFD2; ubiquitin conjugation factor E4) gene (Chr. 11)

CUL1 (cullin 1) gene

CUL2 (cullin 2) gene (10p11.2)

CUL4A (cullin 4A) gene

NEDD4L (ubiquitin protein ligase NEDD4-like; homolog of S. cerevisiae KIAA0439) gene (18q21)

SMURF1 (SMAD ubiquitination regulatory factor 1) gene (7q21.1-q31.1)

SMURF2 (SMAD ubiquitination regulatory factor 2) gene (17q22-q23)

UBR1 (ubiquitin protein ligase E3 component N-recognin-1) gene (15q15-q21.1)

PARK2 (parkin; PRKN; fragile site FRA6E) gene (6q25.2-q27)

FBXW1B (F-box and WD40 domain protein 1B; beta-transducin repeat-containing protein 2

[βTRC2, BTRC2; βTRCP2, BTRCP2]; isoform A of beta-transducin repeat-containing protein 2

[βTRCP2A, BTRCP2A]; isoform B of beta-transducin repeat-containing protein 2

[βTRCP2B, BTRCP2B]; isoform C of beta-transducin repeat-containing protein 2

[βTRCP2C, BTRCP2C]) gene (5q35.1) FBXL genes

- Deubiquitinating enzyme (DUB) genes

USP1 (ubiquitin-specific protease 1) gene (1p32.1-p31.3)

USP2 (ubiquitin-specific protease 2; 41-kDa ubiquitin-specific protease [UBP41]) gene (Chr. 11)

USP3 (ubiquitin-specific protease 2) gene (15q22.3)

USP4 (ubiquitin-specific protease 4; ubiquitous nuclear protein [UNP]) gene (3p21.31)

USP5 (ubiquitin-specific protease 5; isopeptidase T [ISOT]) gene (12p13)

USP6 (ubiquitin-specific protease 6; TRE2 oncogene) gene (17p13)

USP7 (ubiquitin-specific protease 7, herpesvirus-associated ubiquitin-specific protease [HAUSP]

gene (16q13.3)

USP8 (ubiquitin-specific protease 8; USP8-PIK3R2 fusion gene; deubiquitinating enzyme HUMORF8) gene

USP9X (X chromosome ubiquitin-specific protease 9; X-linked Drosophila Fat facets-related [DFFRX]) gene (Xp11.4)

USP9Y (Y chromosome ubiquitin-specific protease 9; Y-linked Drosophila Fat facets-related [DFFRY]) gene (Yq11.2)

USP11 (ubiquitin-specific protease 11; X-linked ubiquitin carboxy-terminal hydrolase 1 [UHX1]) gene (Xp21.2-p11.2)

USP12 (ubiquitin-specific protease 12; ubiquitin-hydrolyzing enzyme 1 [UBH1]) gene (5q34)

USP13 (ubiquitin-specific protease 13; isopeptidase T3 [ISOT3]) gene (3q26.2-q26.3)

USP14 (ubiquitin-specific protease 14; tRNA guanine transglycosylase [TGT]) gene (18p)

USP15 (ubiquitin-specific protease 15) gene (12q14)

USP16 (ubiquitin-specific protease 16; UBPM) gene

USP17 (ubiquitin-specific protease 17) gene (4p16.1)

USP18 (ubiquitin-specific protease 18; 43kDa ubiquitin-specific protease [UBP43]; 43-kDa interferon-stimulated gene [ISG43]) gene (22q11.2)

USP21 (ubiquitin-specific protease 21; formerly ubiquitin-specific protease 23 [USP23]) gene (1q22)

USP25 (ubiquitin-specific protease 25; ubiquitin-specific protease on chromosome 21 [USP21]) gene (21q11-q21)

USP26 (ubiquitin-specific protease 26) gene (Chr. X)

USP32 (ubiquitin-specific protease 32; ubiquitin-specific protease 10 [USP10]; NY-REN-60) gene (17q22)

- Ubiquitin hydrolase (UCH) genes

UCHL1 (ubiquitin carboxy-terminal esterase L1; neuron-specific ubiquitin C-terminal hydrolase; PGP9.5) gene (4q14)

UCHL3 (ubiquitin carboxy-terminal esterase L3) gene

- Ubiquitin-like protein (UBL) genes

UBL1 (ubiquitin-like 1; SMT3; SENTRIN; PIC1; SUMO1) gene (2q32.2-q33)

NEDD8 (developmentally downregulated neural precursor cell expressed 8) gene

UBL3 (ubiquitin-like 3) gene (13q12-q13)

UBL4 (ubiquitin-like 4; GDX; DXS25E) gene (Xq28)

UBL5 (ubiquitin-like 5; homolog of S. cerevisiae HUB1) gene (19p13.2)

UBD (diubiquitin) gene (Chr. 6)

UHRF1 (ubiquitin-like protein containing PHD and RING finger domains 1; 90 kDa inverted CCAAT box-binding protein [ICBP90; 95-kDa nuclear phosphoprotein

[NP95]) gene (19p13.3)

A1U (ataxin-1 ubiquitin-like interacting factor; C1ORF6) gene (1q21)

HERDPUD1 (ubiquitin-like domain-containing homocysteine- and endoplasmic reticulum

stress-inducible protein 1; homocysteine-responsive endoplasmic reticulum resident protein

[HERP]; methyl methanesulfonate-inducible fragment 1 [MIF1]; KIAA0025)

gene (16q12.2-q13)

UBQLN1 (ubiquilin 1; homolog of rat DA41; homolog of mouse PLIC1) gene (9q21.2-q21.3)

UBQLN2 (ubiquilin 2; homolog of mouse PLIC2) gene (Xp11.23-p11.1)

UBQLN3 (ubiquilin 3) gene (11p15)

UBASH2A (ubiquitin-associated and SH3 domain-containing protein A) gene (21q22.3)

UFD1L (ubiquitin fusion degradation 1-like) gene (22q11.2)

SQSTM1 (sequestosome 1; ubiquitin-binding protin P62) gene (5q35)

- Other ubiquitin-related protein genes

APPBP1 (amyloid beta precursor protein-binding protein 1) gene (16q22)

UBA52 (ubiquitin A 52-residue ribosomal protein fusion product; 52-residue human ubiquitin carboxyl extension protein [HUBCEP52]; UBCEP; CEP52; ribosomal protein L40 [RPL40]) gene (19p13.1-p12)

CCNE1 (cyclin E1; cyclin E [CCNE]) gene (19q13.1)

PRSS15 (serine protease 15; homolog of E. coli LON) gene (19p13.2)

FAF1 (FAS-associated factors; HFAF1) gene

HIF1α (hypoxia-inducible factor, alpha subunit [HIF1A]; member of PAS superfamily [MOP1])

gene (14q21-q24)

HN (humanin) gene

ATX1 (ataxin 1; SCA1) gene (6p23)

ARRβ2 (beta-arrestin 2 [ARRB2; ARβ2, ARB2]) gene (17p13)

DES (desmin) gene (2q35)

TBP (TATA box-binding protein) gene (6q27)

Genes associated with 26S proteasome enzymes

- PSME1 (proteasome activator subunit 1; proteasome activator 28-alpha [PA28α; PA28A];

- γ-interferon-inducible protein 5111 IFI5111]; 29kDa subunit MCP activator) gene (14q11.2)

- PSMC1 (ATPase proteasome 26S, subunit 1; protease 26S, subunit 4 [S4]) gene (19q13.3)

- PSMC3 (ATPase proteasome 26S, subunit 3; TAT-binding protein 1 [TBP1]) gene (11p13-p12)

- PSMD4 (non-ATPase proteasome 26S, subunit 4; subunit 5A of protease 26S [S5A]) gene

- PSMD5 (non-ATPase proteasome 26S, subunit 5; subunit 5B of protease 26S [S5B]) gene (Chr. 9)

- PSMD9 (non-ATPase proteasome 26S, subunit 9; homolog of rat Bridge 1) gene (12q24.2-q24.3)

- PSMD11 (non-ATPase proteasome 26S, subunit 11; subunit 9 of protease 26S [S9]; p44.5) gene

- PSMD12 (non-ATPase proteasome 26S, subunit 12; p55) gene

- PSMβ2 (beta-type proteasome, subunit 2) gene (1p34.2)

PROTEIN FOLDING AND CHAPERONES

Chaperones in neurodegeration

Protein misfolding and conformational disorders

Genes associated with chaperones

- Heat-shock 70-kDa protein 1A (HSPA1A) gene (6p21.3)

- STIP1 homologous and U box-containing protein 1 (STUB1) gene

- Heat-shock 70-kDa protein 1B (HSPA1B) gene (6p21.3)

- Heat-shock 70-kDa protein-like 1 (HSPA1L) gene (6p21.3)

- Heat-shock 70-kDa protein 2 (HSPA2) gene (14q24.1)

- Heat-shock 70-kDa protein 3 (HSPA3) gene (Chr. 21)

- Heat-shock 70-kDa protein 4 (HSPA4) gene (5q31.1-q31.2)

- Heat-shock 70-kDa protein 5 (HSPA5) gene (9q34)

- Heat-shock 70-kDa protein 6 (HSPA6) and 7 (HSPA7) genes (1q22)

- Heat-shock 70-kDa protein 8 (HSPA8) gene (11q23.3-q25)

- Heat-shock 70-kDa protein 9B (HSPA9B) gene (5q31.1)

- Heat-shock 27-kDa protein 1 (HSPB1) gene (7q11.23)

- Heat-shock 27-kDa protein 2 (HSPB2) gene (11q22-q23)

- Heat-shock 27-kDa protein 3 (HSPB3) gene (5q11.2)

- Heat-shock 22-kDa protein 8 (HSPB8) gene (12q24-qter)

- Heat-shock 27-kDa protein 9 (HSPB9) gene (Chr. 17)

- Heat-shock 27-kDa protein-associated protein 1 (HSPBAP1) gene (3q21.1)

- Heat-shock 75-kDa protein (HSP75) gene

- Heat-shock 90-kDa protein 1, alpha-like (HSPCαL; HSPCAL) genes

- Heat-shock 90-kDa protein 1, alpha (HSPCα; HSPCA) gene (1q21.2-q22)

- Heat-shock 90-kDa protein 1, beta (HSPCβ; HSPCB) gene (6p12)

- Heat-shock 90-kDa protein 1 (HSPD1) gene (2q33.1)

- Heat-shock 10-kDa protein (HSPE1) gene (2q33.1)

- Heat-shock transcription factor (HSF) genes

- Growth/differentiation factor 5 (GDF5) gene (20q11.2)

- FUS-interacting protein 1 (FUSIP1) gene (Chr. 1)

- DNAJB genes

DNAJ, E. coli, homolog of, subfamily B, member 2 (DNAJB2) gene (Chr. 2)

Other DNAJB genes

- Crystallins

Crystallin alpha-A (CRYαA) gene (21q22.3)

Crystallin alpha-B (CRYαB) gene (11q22.3-q23.1)

Crystallin gamma-C (CRYγC) gene (2q33-q35)

- Glial fibrillary acidic protein (GFAP) gene (17q21)

- Dopamine receptor-interacting protein, 78-kDa (DRIP78) gene (12q13.1-q13.2)

- Endoplasmic reticulum resident protein (ERDJ5) gene (2p23.1-p22.1)

- Polyadenylate-binding protein, cytoplasmic, 1 (PABPC1) gene (8q22)

- Collagen, type I, alpha-1 (COL1α1; COL1A1) gene (17q21.31-q22)

- Collagen-binding protein 2 (CBP2) gene (11q13.5)

- Activator of heat-shock 90-kDa protein ATPase 1 (AHSA1) gene (14q23.3-31)

- GrpE, E. coli, homolog of, 1 (GRPEL1) gene

- BCL/adenovirus E1B 19-kDa protein-interacting protein 3-like (BNIP3L) gene (8p21)

- FK506-binding protein 4 (FKBP4) gene

- Serine/threonine protein kinase (STK) genes

- Scaffold attachment factor B (SAFB) gene (19p13.3-p13.2)

- Stress-induced phosphoprotein 1 (STIP1) gene (11q13)

- G8 protein (G8) gene (p21.3)

- Torsin-A (DYT1) gene (9q34)

- Copper chaperone for superoxide dismutase (CCS) gene (11q13)

- Chaperone activity of BC1 complex-like (CABC1) gene (1q42.2)

- Stress 70 protein chaperone, microsome-associated, 60kDa (STCH) gene (21q11.1)

- Low-density lipoprotein receptor-related protein-associated protein 1 (LRPAP1) gene (4q16.3)

- Tubulin-specific chaperone (TBC) genes

- Calnexin (CANX) gene (5q35)

- Calmegin (CLGN) gene (4q28.3-q31.1)

- Prefoldin (PFDN) genes

- BCL2-associated athanogenes (BAGs)

- Tuberin (TSC2) gene (16p13.3)

- T-complex 1 (TCP1) gene (6q25.3-q26)

- Chaperonin-containig T-complex polypeptide 1, subunits 1-7 (CCTs)

- Von Hippel-Lindau (VHL) gene (3p26-p25)

- Mitochondrial aconitase (ACO2) gene (22q11.21-q13.31)

- General transcription factor IIH, polypeptide 5 (GTF2H5) gene

- Unactive progesterone receptor, 23-kDa (P23) gene

- Propionyl-CoA carboxylase, beta subunit (PCCβ; PCCB) gene (3q21-q22)

- Retinal pigment epithelium-specific protein, 65-kDa (RPE65) gene (1p31)

- Lecithin retinol acyltransferase (LRAT) gene (4q31)

- Mesoderm development candidate 2 (MESDC2) gene (Chr. 15)

- Zuotin-related factor 1 (ZRF1) gene

- THO complex, subunit 4 (THOC4) gene (17q25.3)

- Hepatitis B virus X-associated protein (HBXAP) gene (11q13)

- Aryl hydrocarbon receptor-interacting protein (AIP) gene (11q13.3)

- Antioxidant protein 1 (ATOX1) gene (5q32)

- Nucleosome assembly protein 1-like 4 (NAP1L4) gene (11p15.5)

- Complex I intermediate-associated protein 30 (CIA30) gene (15q13.3)

- Nucleophosmin/nucleoplasmin family, member 3 (NPM3) gene (10q24-q26)

- Homolog of yeast translocase of outer mitochondrial membrane 70A (TOMM70A) gene

- Prostaglandin E synthase (PTGES) gene (9q34.3)

- Suppressor of TY 16, S. cerevisiae homolog of (SUPT16H; FACT) and structure-specific recognition protein 1 (SSRP1) (11q12) genes

- SCO2, S. cerevisiae, homolog of (SCO2) gene (22q13)

- Synaptosomal-associated protein, 29-kDa (SNAP29)

- Endoplasmic reticulum-to-nucleus signaling 1 (ERN1) and 2 (ERN2)

- SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A,

member 5 (SMARCA5) gene (4q31.1-q31.2)

- Cubilin (CUBN) gene (10p12.1)

- Glucose-regulated protein, 58-kDa (GRP58) gene (15q15)

- TAP-binding protein (TAPBP), or tapasin, gene (6p21.3)

- Hypoxia-upregulated 1 (HYOU1) gene (Chr. 11)

- Mitogen-activated protein kinase-8 (MAPK8) genes

- Tumor necrosis factor (TNF) receptor-associated factor 2 (TRAF2)

- Lectin, mannose-binding 1 (LMAN1) gene (18q21.3-q22)

- Potassium channel, voltage-gated, Shaker-related subfamily, beta subunit, member 2

(KCNAβ2; KCNAB2) gene (1p36.3)

- Transcription elongation factor B3 (TCEB3) gene (1p36.1)

- Suppression of tumorigenicity (ST13) gene (22q13)

- Transforming growth factor beta receptor-associated protein 1 (TRAP1) gene (Chr. 2)

- Potassium channel, voltage-gated, subfamily H, member 2 (KCNH2) gene (7q35-q36)

- Secretory granule neuroendocrine protein 1 (SGNE1) gene (15q11-q15)

- ADP-ribosylation factor-like 3 (ARL3) gene (10q23.3)

- Desmin (DES) gene (2q35)

- Paraplegin (SPG7) gene (16q24.3)

- Wolframin (WFS1) gene (4p16.1)

- ATPase, Cu2+-transporting, alpha polypeptide (ATP7α; ATP7A) gene (Xq12-q13)

- Frataxin (FRDA), or X25, gene (9q13-q21.1)

- Ataxins (ATXNs) and spinocerebellar ataxias (SCAs) genes

Ataxin-1 (ATXN1; SCA1) gene (6p23)

Ataxin-2 (ATXN2; SCA2) gene (12q24)

Ataxin-3 (ATXN3; SCA3) gene (14q24.3-q31)

Ataxin-7 (ATXN7; SCA7) gene (3p21.1-p12)

- Sacsin (SACS) gene (13q12)

- CLN3 gene (16p12.1)

- Acid beta-glucosidase (GBA) gene (1q21)

- Huntingtin (HTT) gene (4p16.3)

- The anticipation phenomenon in Huntington's disease

- Huntingtin-associated proteins

Huntingtin-interacting protein 1 (HIP1) gene (7q11.23)

Huntingtin-interacting protein 2 (HIP2) gene (4p14)

Huntingtin-associated protein 1 (HAP1) gene (17q21.2-q21.3)

Huntingtin-associated protein-interacting protein (HAPIP) gene

Huntingtin-interacting protein 12 (HIP12) gene (12q24.2-q24.3)

Huntingtin-interacting protein 14 (HIP14) gene (12q14-q15)

Repressor element 1 transcription factor (REST) gene

Ring finger protein 2 (RNF2) gene (1q25.3)

Other HTT-interacting proteins

- Other potential chaperone-associated genetic defects

MITOCHONDRIAL DNA

Mitochondrial DNA in neurodegenerative disorders and aging

Mitochondrial DNA mutations and cellular mechanisms of aging

Mitochondrial DNA and biodiversity

GENETICS OF LONGEVITY AND AGING

Genetic determinants of longevity and aging

Genetic polymorphisms associated with determinants of longevity

- KLOTHO (KL) (13q12)

- A-kinase anchor protein 10 (AKAP10) gene (Chr. 9)

- Plasma cholesteryl ester transfer protein (CETP) gene (16q21)

- Superoxide dismutase-1 (SOD1) gene (21q22.1)

- Superoxide dismutase-2 (SOD2) gene (6q25.3)

- Glutathione peroxidase-1 (GPX1) gene (3p21.3)

- Catalase (CAT) gene (11p13)

- Oxidative stress and aging

- Apolipoprotein E (APOE) gene (19q13.2)

- Interleukin-10 (IL10) gene (1q32)

- MTND2 gene

- Longevity genes

- A-kinase anchor protein 2 (AKAP2) gene (9q31-q33)

- Growth/differentiation factor 1 (GDF1) gene (19p12)

- Longevity assurance (LASS) genes

Telomerase-related genes

- Telomere reverse transcriptase (TERT) gene (5p15.33)

- Telomerase RNA component (TERC) gene (3q21-q28)

- Telomerase protein component 1 (TEP1) gene (14q11.2)

- Telomeric repeat-binding factor 1 (TERF1) gene (8q13)

- Telomeric repeat-binding factor 2 (TERF2) gene (16q22.1)

- Protection of telomeres 1 (POT1) gene

- Other telomere-associated genes

Life expectancy and longevity

GENETICS OF PROGERIA

Genes associated with Hutchinson-Gilford progeria syndrome (HGPS)

Werner's syndrome (WRN) gene (8p12-p11.2), Bloom's syndrome (BLM) gene (15q26.1) and human RECQ helicase genes

Genes associated with type I Cockayne's syndrome

Ataxia-telangiectasia (ATM) gene (11q22.3)

Other genes of potential interest in progeroid syndromes

CYTOGENETIC CHANGES AND DNA REPAIR METHODOLOGICAL PROBLEMS IN ALZHEIMER's DISEASE GENETICS

Genetic interactions

GENETIC TESTING

REFERENCES

 
  



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