HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.

Abstract
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive sterol storage disease characterized by the accumulation of a bile alcohol, cholestanol, in diverse tissues. The disorder is manifested by extensive nervous system involvement, juvenile cataracts, tendon xanthomas, and premature atherosclerosis and is caused by sterol 27-hydroxylase (EC 1.14.13.15) mutations. Recently, two mutations were shown to cause CTX in four Jewish families of Moroccan origin. An additional mutant allele, found in a Jewish family of Algerian origin is characterized here. Sequence analysis revealed a C to T transition at cDNA position 1037 which predicted a threonine to methionine substitution at residue 306 (designated T306M). It is highly suggestive, but not definitive, that this transition is the mutation causing CTX in this family. A search for additional cases from Jewish families of North African extraction identified five new families including 10 cases. The three sterol 27-hydroxylase gene mutations account for all 10 CTX families and their presence may suggest the existence of positive selective forces that lead to an increased prevalence of this relatively rare disease in Jews from North Africa.
AuthorsA Reshef, V Meiner, V M Berginer, E Leitersdorf
JournalJournal of lipid research (J Lipid Res) Vol. 35 Issue 3 Pg. 478-83 (Mar 1994) ISSN: 0022-2275 [Print] United States
PMID8014582 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S.)
Chemical References
  • Cytochrome P-450 Enzyme System
  • Steroid Hydroxylases
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase
Topics
  • Africa, Northern
  • Algeria
  • Base Sequence
  • Cholestanetriol 26-Monooxygenase
  • Cytochrome P-450 Enzyme System (genetics)
  • Humans
  • Jews (genetics)
  • Molecular Sequence Data
  • Morocco
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Steroid Hydroxylases (genetics)
  • Xanthomatosis (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: