Diseases: Obesity: Aquaporin 7 (AQP7) May Be Altered

Glycerol efflux from adipocytes to the liver is crucial for lipid and glucose homeostasis. Aquaporin 7 (AQP7) is a glycerol channel serving as a gateway of glycerol release and a regulator of adipocyte metabolism.

A study done by Catalan et al. measured the gene expression of AQP7 in visceral adipose tissue (VAT) and AQP9 in liver biopsies obtained from 20 women (Catalan et al., 2008). It was observed that mRNA levels of AQP7 in VAT were up-regulated in obese patients, while AQP9 were down-regulated in obese type 2 diabetes mellitus (T2DM) patients.

However, in AQP7 knockout mice, the development of obesity and hyperglycemia was observed. Single nucleotide polymorphisms (SNPs), such as A-953G in the AQP7 promoter, were found to be related to type 2 diabetes in 977 Caucasians (Prudente et al., 2007). The -953G promoter caused decreased transcriptional activity, as well as the ability to bind CCAAT/enhancer binding protein (C/EBP) beta transcription factor. It was suggested that down-regulation of AQP7 in adipose tissue is associated with obesity and type 2 diabetes.

In another study done by Ceperuelo-Mallafre et al., AQP7 expression levels were down-regulated in 13 severely obese women (Ceperuelo-Mallafre et al., 2007). The expression of AQP7 was found to be negatively related with proinflammatory genes such as TNFalpha. It expression levels may be positively related with the expression of PPARgamma. However, the expression of AQP7 seemed not changed in patients with type 2 diabetes.

These studies show that AQP7 is may be associated with obesity and/or type 2 diabetes. However, more studies are still needed in larger groups of patients to determine the exact role of this gene in obesity.

References:

Catalan, V., Gomez-Ambrosi, J., et al. (2008) Influence of morbid obesity and insulin resistance on gene expression levels of AQP7 in visceral adipose tissue and AQP9 in liver. Obes Surg 18, 695-701.

Ceperuelo-Mallafre, V., Miranda, M., et al. (2007) Adipose tissue expression of the glycerol channel aquaporin-7 gene is altered in severe obesity but not in type 2 diabetes. J Clin Endocrinol Metab 92, 3640-3645.

Prudente, S., Flex, E., et al. (2007) A functional variant of the adipocyte glycerol channel aquaporin 7 gene is associated with obesity and related metabolic abnormalities. Diabetes 56, 1468-1474.

Diseases: Obesity: ABCA1

ABCA1 (ATP-binding cassette sub-family A (ABC1) member 1) is one of the most important cellular cholesterol transporters in charge of removing cholesterol from the body through cholesterol efflux. Mutations of this gene have been associated with high-density-lipoprotein (HDL) deficiency, Tangier disease and familial hypoalphalipoproteinemia.

In Chinese overweight and obese patients, the expression of ABCA1 in monocytes was found to be significantly reduced (Xu et al., 2009). This reduction was related to the dysfunction of cholesterol efflux from monocyte-derived macrophages.

In the Mexican population, a nonsynonymous variant R230C in the ABCA1 coding sequence was found in people with decreased HDL cholesterol (Villarreal-Molina et al., 2007). However, this variant was not found in individuals with high-HDL cholesterol. In addition, this variant may be associated with obesity, apolipoprotein A-I levels, the metabolic syndrome, and type 2 diabetes.

In overweight/obese Thai males, those with the mutant allele of R219K in the ABCA1 were found to have lower level of HDL than normal people (Kitjaroentham and Hananantachai, 2007). This is a common polymorphism in Thai ethnic groups. Such findings suggest the possible role of this gene in obesity.

In Japanese individuals, the 2677G –> A/T polymorphism (rs2032582) of the ATP-binding cassette, subfamily B, member 1 gene (ABCB1) was found to be associated with obesity (Ichihara et al., 2008). The ABCB1 genotype may be considered for assessment of genetic risk of obesity.

References:

Ichihara, S., Yamada, Y., et al. (2008) Association of a polymorphism of ABCB1 with obesity in Japanese individuals. Genomics 91, 512-516.

Kitjaroentham, A., Hananantachai, H., et al. (2007) R219K polymorphism of ATP binding cassette transporter A1 related with low HDL in overweight/obese Thai males. Arch Med Res 38, 834-838.

Villarreal-Molina, M. T., Aguilar-Salinas, C. A., et al. (2007) The ATP-binding cassette transporter A1 R230C variant affects HDL cholesterol levels and BMI in the Mexican population: association with obesity and obesity-related comorbidities. Diabetes 56, 1881-1887.

Xu, M., Zhou, H., et al. (2009) The expression of ATP-binding cassette transporter A1 in Chinese overweight and obese patients. Int J Obes (Lond) 33, 851-856.

Gene List: Other Transporters

Transporters not included in other families:

Gene Symbol/Link; Other Symbols; Full Name; Other Names

ASNA1; ARSA-I, ARSA1, MGC3821; arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)

CD68; DKFZp686M18236, GP110, SCARD1; CD68 molecule

CTNS; CTNS-LSB, PQLC4; cystinosis, nephropathic

DISP1; DISPA, DKFZp434I0428, FLJ43740, MGC104180, MGC13130, MGC16796; dispatched homolog 1 (Drosophila)

HMGCR; LDLCQ3; 3-hydroxy-3-methylglutaryl-Coenzyme A reductase

LAMP1; CD107a, LAMPA, LGP120; lysosomal-associated membrane protein 1

LAMP2; CD107b, LAMPB, LGP110; lysosomal-associated membrane protein 2

LAMP3; CD208, DC-LAMP, DCLAMP, LAMP, TSC403; lysosomal-associated membrane protein 3

LAPTM4A; HUMORF13, KIAA0108, LAPTM4, MBNT, Mtrp; lysosomal protein transmembrane 4 alpha

LAPTM4B; LAPTM4beta, LC27; lysosomal protein transmembrane 4 beta

LAPTM5; CLAST6, FLJ61683, FLJ97251, MGC125860, MGC125861; lysosomal protein transmembrane 5

MPDU1; CDGIF, FLJ14836, HBEBP2BPA, Lec35, My008, PP3958, PQLC5, SL15; mannose-P-dolichol utilization defect 1

NPC1; FLJ98532, NPC; Niemann-Pick disease, type C1

OCA2; BEY, BEY1, BEY2, BOCA, D15S12, EYCL, EYCL2, EYCL3, HCL3, P, PED, SHEP1; oculocutaneous albinism II

OSTalpha; MGC39807, OSTA; organic solute transporter alpha

OSTBETA; FLJ26090, MGC118959, MGC118960, MGC118961, OSTB; organic solute transporter beta

OXA1L; MGC133129, OXA1; oxidase (cytochrome c) assembly 1-like

PEX5; FLJ50634, FLJ50721, FLJ51948, PTS1-BP, PTS1R, PXR1; peroxisomal biogenesis factor 5

PEX7; RP11-55K22.6, PTS2R, RCDP1, RD; peroxisomal biogenesis factor 7

PEX12; PAF-3; peroxisomal biogenesis factor 12

PEX13; NALD, ZWS; peroxisomal biogenesis factor 13

PEX14; MGC12767, NAPP2, Pex14p, dJ734G22.2; peroxisomal biogenesis factor 14

POR; CPR, CYPOR, DKFZp686G04235, FLJ26468, P450R; P450 (cytochrome) oxidoreductase

PTCH2; RP11-269F19.8, PTC2; patched homolog 2 (Drosophila)

RHAG; CD241, RH2, RH50A, Rh50, Rh50GP, SLC42A1; Rh-associated glycoprotein

RHBG; RP11-139I14.1, SLC42A2; Rh family, B glycoprotein (gene/pseudogene)

RHCG; C15orf6, PDRC2, RHGK, SLC42A3; Rh family, C glycoprotein

SFXN1; FLJ12876; sideroflexin 1

SFXN5; BBG-TCC, MGC120413, MGC120415; sideroflexin 5

TMEM20; C10orf60, FLJ33990; transmembrane protein 20

TMEM22; DKFZp564K2464, MGC3295; transmembrane protein 22

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