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Effects of long-term magnesium deficiency on bone density, bone fragility and osteolytic bone markers in the rat

100%

Bauer A., Dibbelt L., Koeller W., Stendig-Lindberg G., Rob P. M.

Journal of Elementology

2005

tom 10

nr 4 Suppl.1

16-17

Molecular findings in Brazilian patients with osteogenesis imperfecta

84%

Reis F. C., Alexandrino F., Steiner C. E., Norato D. Y. J., Cavalcanti D. P., Sartorato E. L.

Journal of Applied Genetics

2005

tom 46

nr 1

Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical diagnosis of OI have a mutation in the COL1A1 or COL1A2 genes that encode the chains of type I procollagen, the major protein in bones. Hence, the aim of the present study was to identify mutations in the COL1A1 gene in 13 unrelated Brazilian OI patients. This is the first molecular study of OI in Brazil. We found 6 mutations, 4 of them novel (c.1885delG, p.P239A, p.G592S, p.G649D) and 2 previously described (p.R237X and p.G382S). Thus, the findings show that there are no prevalent mutations in our sample, and that their distribution is similar to that reported by other authors, with preponderance of substitutions for glycine in the triple helix domain, causing OI types II, III and IV.

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans

84%

Gajko-Galicka A.

Acta Biochimica Polonica

2002

tom 49

nr 2

Osteogenesis imperfecta (OI), commonly known as "brittle bone disease", is a dominant autosomal disorder characterized by bone fragility and abnormalities of connective tissue. Biochemical and molecular genetic studies have shown that the vast majority of affected individuals have mutations in either the COL1A1 or COL1A2 genes that encode the chains of type I procollagen. OI is associated with a wide spectrum of phe- notypes varying from mild to severe and lethal conditions. The mild forms are usually caused by mutations which inactivate one allele of COL1A1 gene and result in a reduced amount of normal type I collagen, while the severe and lethal forms result from dominant negative mutations in COL1A1 or COL1A2 which produce structural defects in the collagen molecule. The most common mutations are substitutions of glycine residues, which are crucial to formation and function of the collagen triple helix, by larger amino acids. Although type I collagen is the major structural protein of both bone and skin, the mutations in type I collagen genes cause a bone disease. Some reports showed that the mutant collagen can be expressed differently in bone and in skin. Since most mutations identified in OI are dominant negative, the gene therapy requires a fundamentally different approach from that used for genetic-recessive disorders. The antisense therapy, by reducing the expression of mutant genes, is able to change a structural mutation into a null mutation, and thus convert severe forms of the disease into mild OI type I.

Ograniczanie wyników

1 Acta Biochimica Polonica

1 Journal of Applied Genetics

1 Journal of Elementology

1 Alexandrino F.

1 Bauer A.

1 Cavalcanti D. P.

1 Dibbelt L.

1 Gajko-Galicka A.

1 Koeller W.

1 Norato D. Y. J.

1 Reis F. C.

1 Rob P. M.

1 Sartorato E. L.

1 Steiner C. E.

1 Stendig-Lindberg G.

2 2005

1 2002

Wyniki wyszukiwania

Effects of long-term magnesium deficiency on bone density, bone fragility and osteolytic bone markers in the rat

Molecular findings in Brazilian patients with osteogenesis imperfecta

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans