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JCI table of contents: Dec. 21, 2006

Researchers have discovered that mutations in the p62 gene are associated with abnormal bone cell development, but do not cause full-blown Paget disease. Meanwhile, a study found that GIP and GLP1R hormones influence energy levels beyond the pancreas, affecting brain cells, adipose tissue, and body weight.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateDec 21, 2006

Osteoarthritis may be sign of faster 'biological ageing'

A population-based study found that people with hand osteoarthritis had significantly shorter white cell telomere lengths compared to those without the disease. Telomere length was also associated with the severity of osteoarthritis, suggesting a link between biological ageing and degenerative inflammatory bone disease.

SourceBMJ Specialty Journals·JournalAnnals of the Rheumatic Diseases·DateOct 1, 2006

New study finds a positive association between periodontal disease and coronary heart disease

Researchers found a positive association between periodontal disease and coronary heart disease, particularly in individuals under 60 with significant alveolar bone loss. The study suggests that chronic infections and inflammatory responses from periodontal disease may contribute to the development of atherosclerosis.

SourceAmerican Academy of Periodontology·JournalJournal of Periodontology·DateSep 26, 2006

Matrilin-3 gene discovered to prevent onset of osteoarthritis

Researchers have discovered a gene, matrilin-3, that prevents the onset of osteoarthritis in adult mice. The study reveals a correlation between matrilin-3 and osteoarthritis, suggesting potential diagnostic and predictive uses. Matrilin-3 plays a role in early bone development and controls bone mineral density in adulthood.

SourceLifespan·JournalAmerican Journal Of Pathology·DateJul 24, 2006

Relationship of brain and skull more than just packaging

A team of researchers, including biological anthropologists and physicians, studied the relationship between the brain and skull in infants with craniosynostosis using CT scans and MRIs. They found a strong correlation between neural structures located near the top of the brain and bony features at the base of the skull.

Van Buchem disease decoded

Researchers have identified a regulatory element within the 52-kilobase deletion region responsible for Van Buchem disease. This discovery provides strong causal evidence linking the deletion to the disease and opens up new avenues for understanding bone formation and potentially developing therapeutic agents.

SourceCold Spring Harbor Laboratory·JournalGenome Research·DateJun 16, 2005

Chromosome 'caps' predict bone marrow disease

Researchers at Imperial College London have discovered a link between chromosome 'caps' and the prediction of rare bone marrow diseases. The study found that shorter telomeres in chromosomes can indicate an increased risk of disease severity and early onset, providing a potential new mechanism for understanding disease anticipation.

SourceImperial College London·JournalNature Genetics·DateApr 18, 2004

Immunoprivilege has its disadvantages

Research findings indicate that viral infections can cause chronic vascular disease by establishing a protected niche within the elastic media of large arteries. This 'immunoprivilege' allows viruses to evade the immune system, leading to destructive arteritis and inflammation.

SourceJCI Journals·JournalJournal of Clinical Investigation·DateJan 9, 2001

On-line info leads to gene identification

Researchers at Indiana University School of Medicine isolated the gene responsible for autosomal dominant hypophosphataemic rickets, a rare disorder affecting bone development. The discovery was made possible by using online resources from the Human Genome Project, paving the way for potential new therapies.

SourceIndiana University·JournalNature Genetics·DateNov 16, 2000

Genetic marker common in people of European heritage doesn't explain high rates of periodontal disease in Chinese

A recent study found that the genetic marker associated with periodontal disease in people of European heritage is barely present in Chinese populations. This suggests that oral hygiene habits, smoking, and other risk factors may be more important in explaining the high prevalence of periodontal disease in Chinese populations.

SourceAmerican Academy of Periodontology·JournalJournal of Periodontology·DateFeb 27, 2000

Gum disease may be genetic

Researchers identified a link between genetic mutations in the cathepsin C gene and severe gum disease and periodontitis. The study found that individuals with normal functioning of the cathepsin C gene tend to have healthy gums, suggesting dietary, bacterial, and other genetic factors can compromise its function.

SourceBMJ Specialty Journals·JournalJournal of Medical Genetics·DateFeb 15, 2000

Nationwide Hunt For Rheumatoid Arthritis Genes Launched: National Institutes Of Health And Arthritis Foundation Announce Research Partnership

A nationwide effort to find genes that determine susceptibility to rheumatoid arthritis has been launched, with researchers collecting medical information and genetic material from 1,000 families. The project aims to identify genetic regions shared by affected siblings, which may contain genes involved in the disease.