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Genetic mutation explains form of brittle bone disease

A newly identified gene mutation in the CRTAP gene helps explain a subset of osteogenesis imperfecta (OI) cases, where bones break easily due to abnormal collagen protein modification. The finding may also offer clues to as-yet-undescribed connective tissue diseases and provide insight into collagen formation.

Researchers discover new gene responsible for brittle bone disease

A team of researchers has identified a new genetic mutation responsible for osteogenesis imperfecta (OI), a condition that makes bones more likely to break. The study found that mutations in the CRTAP gene reduce the ability of a protein involved in collagen formation, leading to weaker bone and increased risk of fracture.

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Expanding waistlines triggered by your genes

Researchers at U-M's Life Sciences Institute discovered that the MT1-MMP gene regulates fat cell size and metabolic gene expression. In three-dimensional environments, the gene plays a critical role in adipocyte development, potentially leading to novel therapeutics for obesity prevention.

In 3D, early fat development first requires 'remodeling'

In the absence of MT1-MMP, preadipocytes fail to break through extracellular matrix, disrupting fat cell development. However, MT1-MMP is essential for remodeling the surrounding matrix to facilitate normal fat formation. The enzyme may also regulate collagen in white adipose tissue and act as a protein-degrading rheostat.

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UF scientists reveal ancient origin of vertebrate skeleton

Researchers found that lampreys, long thought to be evolutionary outliers, use the same essential protein to build cartilage as all other vertebrates, including humans. The discovery sheds light on the early origins of vertebrate skeletal development and challenges traditional views on vertebrate evolution.

Wisconsin scientists find a way to make human collagen in the lab

A team of scientists from the University of Wisconsin-Madison reports a breakthrough in making human collagen in the lab, opening doors for medical applications and nanotechnology. The new discovery enables the creation of synthetic collagen that can be tailored for specific uses, including wound healing and implantable sensors.

The role of Type II Collagen in rheumatoid arthritis

A study found that chemical modification of Type II Collagen creates a self-antigen, leading to immune system activation in rheumatoid arthritis patients. The modification of this protein contributes significantly to the disease's progression.

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Diamonds are a doctor's best friend

Researchers have developed diamond-like carbon coatings for medical implants, reducing friction and corrosion while providing biocompatibility. The new method of coating plastics, metals, and collagen enables the production of harder-wearing implants and enhances patient outcomes.

Modified collagen could yield important medical applications

Researchers have developed a method to modify collagen, allowing it to be used in new medical treatments such as preventing blood clots and scar tissue. The modified collagen can also be used to deliver drugs and control the shape of engineered tissue.

A big fat contribution to breast tumor growth

Researchers found that collagen VI from adipocytes stimulates the proliferation and survival of malignant cells in breast tumors. The study suggests a potential link between increased adiposity and breast cancer risk, highlighting the role of extracellular matrix proteins in tumor behavior.

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JCI table of contents May 1, 2005

Research reveals that nitrite is a potent inhibitor of ischemia/reperfusion injury in the liver and heart, limiting cell death and preserving organ function. Additionally, adipocyte-derived collagen VI promotes early tumor growth in breast cancer, while EBV proteins drive immune responses in multiple sclerosis.

Lack of specific collagen type leads to osteoarthritis

Researchers found that mice lacking type VI collagen developed osteoarthritis at a rate five times greater than those with a functioning gene. The study provides new insights into the role of type VI collagen in cartilage health and its impact on osteoarthritis development.

A key signaling molecule in osteoarthritis is identified

Research identifies DDR2 as critical signaling molecule in osteoarthritis progression, leading to increased MMP-13 expression and cartilage degradation. The study suggests that DDR2 inhibitors may slow down osteoarthritis progression, offering a potential new approach for treatment.

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New source for heart bypass replacement blood vessels: Fibrin-based TEVs

A multi-disciplinary team at SUNY Buffalo designed fibrin gel matrix-based vessel ready for test transplantation after only two weeks in culture, exhibiting remarkable remodeling and physiological levels of blood flow. The study holds significant promise for treatment of vascular disease and as a model system to address questions with ...

Molecular motor implicated in tissue remodeling

Researchers discovered that MMP-1 operates as an extracellular molecular motor converting chemical energy into motion by breaking collagen bonds. This process contributes to tissue growth, development, and repair, and may even aid in cancerous invasion.

Actonel® helped preserve bone quality at five years, new data show

A new study found that Actonel maintained the size of calcium-based mineral crystals and the integrity of collagen structure over five years, preserving bone quality. This is significant because osteoporosis therapies should aim to reduce fracture risk, not just treat symptoms.

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Getting through the matrix

Researchers used second-harmonic generation to image tumors in mice, revealing that collagen levels correlate with tumor permeability. The study suggests that a hormone called relaxin could selectively break down tumor-matrix collagen, improving drug delivery to cancer cells.

Texas A&M, Ecor Corp. sign deal to produce health-related proteins

A Texas Agricultural Experiment Station scientist has developed a method of producing collagen and other health-related proteins from plants, replacing human or animal sources. The process involves introducing collagen proteins into sugarcane callus, transforming the cane to produce both sugar and collagen protein in cane stems.

USC researchers use gene therapy to prompt mouse cells to produce human collagen

USC researchers have successfully used gene therapy to prompt mouse cells to produce human collagen, a crucial step towards treating patients with dystrophic epidermolysis bullosa. This breakthrough could lead to the development of new treatments for this debilitating skin condition, which causes blisters and permanent scars.

Bone strength probed by scientists

Researchers found that collagen in bone contains sacrificial bonds that rupture when stretched and reform when healed, allowing bones to recover quickly. The study suggests these bonds may contribute to the toughness of bone and could have implications for human health and technology.

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DDR2 and hepatic fibrosis

Research has identified DDR2 as a key player in the development of hepatic fibrosis, a liver disease characterized by excessive scar tissue buildup. High levels of DDR2 expression have been linked to advanced fibrosis and poor patient outcomes.

Drug decreases blood vessel stiffness in older primates

A novel drug ALT-711 snips vascular collagen bonds, improving flexibility and reducing systolic blood pressure in older non-human primates. The treatment also increased blood flow through the heart, with effects persisting for over a year after administration.

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Inherited Kidney Disorder Traced To Arrested Development Of Membranes

Researchers discovered a genetic mutation in people with Alport syndrome prevents normal transformation process in collagen proteins, leading to gradual loss of membrane integrity. The mutation affects production of alpha-5 collagen, resulting in breakdown of critical glomerular basement membrane.