Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans

Diabetes

Volumn 49, Issue 9, 2000, Pages 1604-1607

  Hebinck, J ^a   Hardt, C ^a   Schols, L ^a   Vorgerd, M ^a   Briedigkeit, L ^a   Kahn, C R ^a   Ristow, M ^a  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN;

ADULT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DIABETES MELLITUS; FEMALE; FRIEDREICH ATAXIA; GENOTYPE; GLUCOSE METABOLISM; HUMAN; INSULIN RESISTANCE; MALE; ORAL GLUCOSE TOLERANCE TEST; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0033857978     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.49.9.1604     Document Type: Article

References (33)

1. Friedreich's Ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
2. Sticky DNA: Self-association properties of long GAA. TTC repeats in R.R.Y triplex structures from Friedreich's ataxia
3. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
4. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
5. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
6. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
7. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
8. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
9. Mutagen hypersensitivity in Friedreich's ataxia
10. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
11. Inhibitory effects of expanded GAA. TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo
12. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene
13. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
14. Assessment of insulin resistance with the insulin suppression test and the euglycemic clamp
15. Evaluation of octreotide to assess insulin-mediated glucose disposal by the insulin suppression test
16. Insulin sensitivity test using a somatostatin analogue, octreotide (Sandostatin)
17. Glucose and insulin metabolism in Friedreich's ataxia
18. Friedreich's ataxia and oral glucose tolerance: The effect of ingested glucose on serum glucose and insulin values in homozygotes, obligate heterozygotes and potential carriers of the Friedreich's ataxia gene
19. Glucose tolerance and erythrocyte insulin receptors in Friedreich's ataxia
20. Glucose intolerance in Friedreich's ataxia: Association with insulin resistance and decreased insulin binding
21. Glucose metabolism alterations in Friedreich's ataxia
22. Glucose intolerance in first-degree relatives of patients with Friedreich's ataxia is associated with insulin resistance: Evidence for a closely linked inherited trait
23. An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene
24. No association between the Friedreich's ataxia gene and NIDDM in the French population
25. Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose-induced β-cell function in Danish Caucasians
26. Altered β-cell characteristics in impaired glucose-tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene
27. A genome-derived (gaa.ttc)24 trinucleotide block binds nuclear protein(s) specifically and forms triple helices
28. Protein binding to simple repetitive sequences depends on DNA secondary structure(s)
29. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
30. Mitochondrial impairment of human muscle in Friedreich ataxia in vivo
31. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
32. Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin Secretion and causes insulin resistance