Mitochondrial diabetes is caused by mutations in genes that are inherited with mitochondria. Therefore these disorders show a maternal type of inheritance. The clinical picture is variable as it depends on the content of altered mitochondria. In a variable degree other organs might be affected.
| 1. |
Salen G et al. (1996) Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith-Lemli-Opitz syndrome.
|
| 2. |
Buch S et al. (2007) A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
|
| 3. |
Stewart GW et al. (2006) Mediterranean stomatocytosis/macrothrombocytopenia: update from Adelaide, Australia.
|
| 4. |
Solcà C et al. (2005) Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
|
| 5. |
None (2003) Images in clinical medicine. Phytosterolemia and xanthomatosis.
|
| 6. |
Lee MH et al. (2001) Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities.
|
| 7. |
Lu K et al. (2001) High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus.
|
| 8. |
Savoia A et al. (2001) Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.
|
| 9. |
Patel SB et al. (1998) Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21.
|
| 10. |
Stewart GW et al. (2008) Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia.
|
| 11. |
Wang C et al. (1981) A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia.
|
| 12. |
None (1980) Phytosterolaemia, xanthomatosis and premature atherosclerotic arterial disease: a case with high plant sterol absorption, impaired sterol elimination and low cholesterol synthesis.
|
| 13. |
Brahimi S et al. (1984) Platelet count and mean platelet volume in an Algerian population indicating a low prevalence of Mediterranean macrothrombocytopenia.
|
| 14. |
Kwiterovich PO et al. (1981) Hyperapobetalipoproteinaemia in two families with xanthomas and phytosterolaemia.
|
| 15. |
Ducrou W et al. (1969) Stomatocytes, haemolytic anaemia and abdominal pain in Mediterranean migrants. Some examples of a new syndrome?
|
| 16. |
Bhattacharyya AK et al. (1974) Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters.
|
| 17. |
Skrede B et al. (1985) The presence of 5 alpha-sitostanol in the serum of a patient with phytosterolemia, and its biosynthesis from plant steroids in rats with bile fistula.
|
| 18. |
Salen G et al. (1985) Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis.
|
| 19. |
Velho G et al. (1996) Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation.
|
| 20. |
Ogun O et al. (2012) Pearls & oy-sters: maternally inherited diabetes and deafness presenting with ptosis and macular pattern dystrophy.
|
| 21. |
None (2001) Mitochondrial DNA mutations and diabetes: another step toward individualized medicine.
|
| 22. |
Guillausseau PJ et al. (2001) Maternally inherited diabetes and deafness: a multicenter study.
|
| 23. |
Chinnery PF et al. (1999) Nonrandom tissue distribution of mutant mtDNA.
|
| 24. |
Martin Negrier ML et al. (1998) Partial triplication of mtDNA in maternally transmitted diabetes mellitus and deafness.
|
| 25. |
Kameoka K et al. (1998) Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes.
|
| 26. |
Vialettes BH et al. (1997) Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.
|
| 27. |
't Hart LM et al. (1996) Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging.
|
| 28. |
Moses SW et al. (1991) Fructose-1,6-diphosphatase deficiency in Israel.
|
| 29. |
Schulz JB et al. (1993) Mitochondrial gene mutations and diabetes mellitus.
|
| 30. |
Ballinger SW et al. (1994) Mitochondrial diabetes revisited.
|
| 31. |
Sue CM et al. (1993) Mitochondrial gene mutations and diabetes mellitus.
|
| 32. |
Alcolado JC et al. (1991) Importance of maternal history of non-insulin dependent diabetic patients.
|
| 33. |
Reardon W et al. (1992) Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.
|
| 34. |
Ballinger SW et al. (1992) Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion.
|
| 35. |
van den Ouweland JM et al. (1992) Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.
|
| 38. |
Lee MH et al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.
|
| 39. |
Berge KE et al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.
|
| 40. |
Tillmann H et al. (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.
|
| 41. |
Kikawa Y et al. (1997) Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
|
| 42. |
Rothschild CB et al. (1995) Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.
|
| 43. |
Besley GT et al. (1994) Fructose-1,6-bisphosphatase deficiency: severe phenotype with normal leukocyte enzyme activity.
|
| 44. |
Kikawa Y et al. (1995) Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.
|
| 45. |
Nguyen LB et al. (1990) A molecular defect in hepatic cholesterol biosynthesis in sitosterolemia with xanthomatosis.
|
| 46. |
Greene HL et al. (1972) "Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid.
|
| 47. |
Pagliara AS et al. (1972) Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy.
|
| 48. |
Baerlocher K et al. (1971) Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency.
|
| 49. |
Melancon SB et al. (1972) Detection of fructose-6,-diphosphatase deficiency with use of white blood cells.
|
| 50. |
Sia CL et al. (1969) Studies on the subunit structure of rabbit liver fructose diphosphatase.
|
| 51. |
Baker L et al. (1970) Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.
|
| 52. |
Bührdel P et al. (1990) Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.
|
| 53. |
Odievre M et al. (1975) [Fructose 1,6-diphosphatase deficiency in 2 sisters].
|
| 54. |
Lu K et al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.
|
| 55. |
Beaty TH et al. (1986) Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.
|
| 56. |
Hatanaka I et al. (1990) Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia.
|
| 57. |
Shulman RS et al. (1976) Beta-sitosterolemia and xanthomatosis.
|
| 58. |
None (1975) Mediterranean macrothrombocytopenia.
|
| 59. |
Paulus JM et al. (1978) Platelet formation in Mediterranean macrothrombocytosis.
|
| 60. |
Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.
|
| 61. |
Li B et al. (2014) Fructose-1,6-bisphosphatase opposes renal carcinoma progression.
|
| 62. |
Rios J et al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
|
| 63. |
Mannucci L et al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
|
| 64. |
Rees DC et al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
|
| 65. |
Yang C et al. (2004) Disruption of cholesterol homeostasis by plant sterols.
|
| 66. |
None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.
|
| 67. |
Sehayek E et al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.
|
| 68. |
Yu L et al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.
|
| 69. |
Matsuura T et al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.
|
| 70. |
Repa JJ et al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.
|
| 71. |
Orphanet article Orphanet ID 225
|
| 72. |
OMIM.ORG article Omim 520000
|