What is marble bone disease?
Abstract. Osteopetrosis, or marble bone disease, is a rare skeletal disorder due to a defective function of the osteoclasts. This defect renders bones more susceptible to osteomyelitis due to decreased vascularity. This disorder is inherited as autosomal dominant and autosomal recessive.
What are the symptoms of marble bone disease?
Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw.
What is the cause of osteopetrosis?
Cause of Osteopetrosis We have two copies of most of our genes, one from each parent. People with osteopetrosis have a gene that causes the body to make too few or abnormal cells called osteoclasts. When the osteoclasts are missing, old bone is not broken down as new bone is made, leading to dense, weak bones.
What does osteopetrosis mean?
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.
How was marble bone disease discovered?
Abstract. Osteopetrosis is an osteoclast disease due to impairment of either osteoclastogenesis or bone resorption. It was first described in 1904 by Albers-Schönberg and is also called marble bone disease because of the dense bones observed by X-ray.
What is the life expectancy of someone with brittle bone disease?
Life expectancy for males with OI was 9.5 years shorter than that for the general population (72.4 years vs 81.9 years), and for females, was 7.1 years shorter than that for the general population (77.4 years vs 84.5 years).
Is there such thing as unbreakable bones?
Unbreakable bones – the LRP5 gene However, a different mutation in the LRP5 gene can also cause an uncommon disorder in which bone density is greatly increased making the bones very strong and resistant to fractures.
Is it good to have hard bones?
Strong bones do much more than provide strength, balance and support for your body; they also enable better posture to improve your appearance and make you look and feel more youthful.
What organs are affected by brittle bone disease?
In more severe forms of osteogenesis imperfecta, there may be bone deformities, poor lung development and lung problems, a barrel-shaped chest, poor muscle development in the arms and legs. Osteogenesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen.
Why is osteopetrosis called marble bone?
Osteopetrosis, literally “stone bone”, also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in …
What race has the densest bones?
African-Americans
Bone mineral density (BMD) and fracture rates vary among women of differing ethnicities. Most reports suggest that BMD is highest in African-Americans, lowest in Asians, and intermediate in Caucasians, yet Asians have lower fracture rates than Caucasians.
What is the weakest bone in human body?
clavicle
The weakest and softest bone in the human is the clavicle or collar bone.
How does knock-out of HOPX affect stem cells?
Knock-out of Hopx disrupts stemness and quiescence of hematopoietic stem cells in mice. HOPX expression in cultured ATII cells increased over culture time. HOPX expression was increased in AECs from bleomycin-instilled mouse lungs in vivo.
What are knockout mice?
Knockout mice are defined as having a certain gene of interest made inoperative, or “knocked out.” Often referred to as KO mice, they are used to study gene function and to validate new drugs and treatments.
Why use Charles River knockout mouse models?
Charles River delivers high-quality, validated knockout mouse models for generating consistent study data which makes research reproducible, and lowers overall study costs.
Is CRISPR-Cas9 the best choice for mouse knockout studies?
CRISPR-Cas9 technology has accelerated the creation of knockout mice and other mutant animals. It not only reduces timelines but also allows for flexibility to work with other species such as the rat model, which may be a better fit for certain studies. But is CRISPR always the best choice?