Variation in gene expression of presenilins-associated rhomboid-like protein and mitochondrial function in skeletal muscle of insulin-resistant rats

Tang, Huiqin; Niu, Li; He, Wenbo; Xu, Yancheng

doi:10.1007/s12020-009-9270-3

Cited by 5 publications

(5 citation statements)

References 22 publications

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“…How does the evidence from previous animal model and functional studies for reduced PARL expression associated with observed and induced T2D (Walder et al, 2005; Tang et al, 2009; Civitarese et al, 2010), square with current results for observed human genomic and expression data implicating ABCC5 , but not PARL ? We believe the most likely explanation for these observations is that ABCC5 plays a contributory causal role in T2D onset, while PARL dysfunction appears to be a consequence rather than a cause of insulin resistance and disease state.…”

Section: Discussionmentioning

confidence: 89%

“…While there is suggestive evidence of association with earlier age of T2D diagnosis (Hatunic et al, 2009), the SNP-insulin association has not subsequently been replicated (Fawcett et al, 2006; Powell et al, 2008; Hatunic et al, 2009). Other studies have also shown reduced PARL expression and mitochondrial function to be associated with T2D and ageing (Tang et al, 2009; Civitarese et al, 2010; Curran et al, 2010). …”

Section: Introductionmentioning

confidence: 92%

“…One candidate gene not previously identified in human GWA studies is mitochondrial gene PARL , located at 3q27 with a documented functional, but controversial role in the development of T2D (Walder et al, 2005; Fawcett et al, 2006; Powell et al, 2008; Hatunic et al, 2009; Tang et al, 2009; Civitarese et al, 2010). There is also replicated evidence of linkage to the 3q26-29 locus region for glycaemic traits (Kissebah et al, 2000), obesity (El-Sayed Moustafa & Froguel, 2013) and T2D (Hegele et al, 1999; Vionnet et al, 2000; Francke et al, 2001; Busfield et al, 2002; Mori et al, 2002; Guan et al, 2008), but these studies potentially implicate many genes in the region (Pritchard & Cox, 2002).…”

Section: Introductionmentioning

confidence: 99%

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ABCC5 Transporter is a Novel Type 2 Diabetes Susceptibility Gene in European and African American Populations

Direk

Lau

Small

et al. 2014

Annals of Human Genetics

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Numerous functional studies have implicated PARL in relation to type 2 diabetes (T2D). We hypothesised that conflicting human association studies may be due to neighbouring causal variants being in linkage disequilibrium (LD) with PARL. We conducted a comprehensive candidate gene study of the extended LD genomic region that includes PARL and transporter ABCC5 using three data sets (two European and one African American), in relation to healthy glycaemic variation, visceral fat accumulation and T2D disease. We observed no evidence for previously reported T2D association with Val262Leu or PARL using array and fine-map genomic and expression data. By contrast, we observed strong evidence of T2D association with ABCC5 (intron 26) for European and African American samples (P = 3E−07) and with ABCC5 adipose expression in Europeans [odds ratio (OR) = 3.8, P = 2E−04]. The genomic location estimate for the ABCC5 functional variant, associated with all phenotypes and expression data (P = 1E−11), was identical for all samples (at Chr3q 185,136 kb B36), indicating that the risk variant is an expression quantitative trait locus (eQTL) with increased expression conferring risk of disease. That the association with T2D is observed in populations of disparate ancestry suggests the variant is a ubiquitous risk factor for T2D.

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Section: Discussionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

ABCC5 Transporter is a Novel Type 2 Diabetes Susceptibility Gene in European and African American Populations

Direk

Lau

Small

et al. 2014

Annals of Human Genetics

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“…Exercise training, ameliorating symptoms of T2DM by reducing the plasma levels of glucose and insulin, also increased the levels of PARL in skeletal muscle [9]. Tang H et al reported that the PARL mRNA level was lower in the insulin-resistant rats than in control animals, and is associated with low mitochondrial content and reduced mitochondrial enzyme activity in the skeletal muscle from the insulin-resistant rats [10]. These results suggest that high-fat-diet-induced insulin resistance is associated with mitochondrial dysfunction in skeletal muscle, and may be the result of the decreased expression of the PARL gene [9,10].…”

Section: Introductionmentioning

confidence: 99%

“…Tang H et al reported that the PARL mRNA level was lower in the insulin-resistant rats than in control animals, and is associated with low mitochondrial content and reduced mitochondrial enzyme activity in the skeletal muscle from the insulin-resistant rats [10]. These results suggest that high-fat-diet-induced insulin resistance is associated with mitochondrial dysfunction in skeletal muscle, and may be the result of the decreased expression of the PARL gene [9,10]. It has been shown that PARL is a new candidate gene for obesity and T2DM [9].…”

Section: Introductionmentioning

confidence: 99%

Association of PARL Gene Rs3732581, Rs73887537 Polymorphisms with Type 2 Diabetes Mellitus, Insulin Resistance and Blood Lipid Levels in Chinese Population

Xi¹

2014

J Metabolic Synd

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Aim: The aim of the current study was to investigate the associations between rs3732581, rs73887537 of PARL gene with type 2 diabetes mellitus and its related phenotypes in Chinese T2DM case-control population. Methods:We genotyped PARL gene rs3732581, rs73887537 polymorphisms in 543 T2DM patients and 384 healthy controls by using PCR-RFLP technique. Plasma glucose, insulin and lipid were measured by biochemical technique.Results: rs73887537 polymorphism of PARL gene was not existed in the studied population. The genotype and allele distributions of rs3732581 polymorphism were not significantly different between T2DM and control groups (both P>0.05). However compared with carriers of C allele, the carriers of the GG genotype showed significantly higher levels of triglyceride, total cholesterol in the T2DM and control groups respectively.Conclusion: rs73887537 polymorphism of PARL gene was not existed in the Chinese studied population. The rs3732581 polymorphism of PARL gene is not associated with the presence of T2DM. However, it is associated with blood lipid levels in T2DM and healthy Chinese population differently.

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The mitochondrial rhomboid protease: Its rise from obscurity to the pinnacle of disease-relevant genes

Chan

McQuibban

2013

Biochimica et Biophysica Acta (BBA) - Biomembranes

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The Rhomboid proteases belong to a highly conserved family of proteins that are present in all branches of life. In Drosophila, the secretory pathway-localized rhomboid proteases are crucial for epidermal growth factor (EGF) signaling. The identification of a mitochondrial-localized rhomboid protease shed light on other functions of rhomboid proteases including the maintenance of mitochondrial morphology and the regulation of apoptosis. More recent work has revealed other functions of the mitochondrial rhomboid protease in mitochondrial and cellular biology, failure of which have been implicated in human diseases. In this review, we will summarize the current knowledge and disease relevance of the mitochondrial-localized rhomboid protease. This article is part of a Special Issue entitled: Intramembrane Proteases.

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Variation in gene expression of presenilins-associated rhomboid-like protein and mitochondrial function in skeletal muscle of insulin-resistant rats

Cited by 5 publications

References 22 publications

ABCC5 Transporter is a Novel Type 2 Diabetes Susceptibility Gene in European and African American Populations

ABCC5 Transporter is a Novel Type 2 Diabetes Susceptibility Gene in European and African American Populations

Association of PARL Gene Rs3732581, Rs73887537 Polymorphisms with Type 2 Diabetes Mellitus, Insulin Resistance and Blood Lipid Levels in Chinese Population

The mitochondrial rhomboid protease: Its rise from obscurity to the pinnacle of disease-relevant genes

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