Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).
There are three types of osteopetrosis, each varies in its severity. The first type is called malignant infantile osteopetrosis. This type is the most severe. The next type is called mild autosomal recessive, or the intermediate type. This type is not as severe as the malignant form, but it can still have a lot of complications and symptoms. The last type is the autosomal dominant type or the adult type. This is the mildest version of the disease; indeed many with this type are asymptomatic (“Osteopetrosis,” 2008).
Malignant infantile osteopetrosis is autosomal recessive, present from birth, and the most severe form of osteopetrosis. Because this type is recessive, the disease does not manifest unless the person receives the same defective gene from the mother and the father. If both parents are carriers for the recessive gene, there is a 25% chance that a child will be infected with the malignant form of osteopetrosis (“Osteopetrosis,” 2008). The gene that is responsible for this disease is located “on the long arm of chromosome 11 (llq12-q13)” (“Osteopetrosis, p. 4).
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...rieved November 27, 2011, from http://aafp.org
Dozier, T., Duncan, I., Klein, A., Lambert, P., & Key, L. J. (2005, April 26). Otologic manifestations of malignant osteopetrosis. National Center for Biotechnology Information. Retrieved November 27, 2011, from http://ncbi.nlm.nih.gov
Kolb, M.D., A. E. (n.d.). What is Osteopetrosis?. Mason Shaffer Foundation || Save a Life ... Donate Cord Blood. Retrieved November 27, 2011, from http://masonshafferfoundation.org
Osteopetrosis. (2008, May 4). Osteopetrosis. Retrieved November 29, 2011, from http://raredisease.org
Stocks, M.D., M. S., Wang, M.D., W. C., Thompson, M.D., J. W., Stocks, M.D., M. C., & Horwitz, M.D., E. M. (n.d.). Malignant infantile osteopetrosis. Archives of Otolaryngology—Head & Neck Surgery, a monthly peer-reviewed medical journal published by AMA. Retrieved November 27, 2011, from http://archoto.com
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder (Kartal-Kaess et al., 2010). This means that the disorder is hereditary; an individual can only get the disorder if one of the parents has it and passes it on to the offspring. The main characteristic of this disorder is the hardening of skeletal muscles, connective tissue, tendons, and ligaments (Kartal-Kaess et al., 2010). The skeletal muscles, connective tissue, tendons and ligaments start to progressively become bone. Skeletal muscles, connective tissue, tendons and ligaments are places where bone does not grow in regular individuals that do not have FOP. Other characteristics of FOP include benign tumor composed of bone and cartilage in the tibia, abnormal growth on the cervical spine, wide and small femoral necks and hearing loss (Kartal-Kaess et al., 2010).
The gene which is responsible for this disease, FGFR3, is located on chromosome 4 at 16.3, which is on the short arm near the telomere (4). Under normal circumstances, this gene forms fibroblast growth receptor 3 which interacts with a protein to begin a stream of signals that contribute to bone development and maintanence; it is also thought that this gene is also important in other tissue development (6, 7, 10-12). Some of the known pathways involved with FGFR3 are STAT1/3, STAT5, MEK1, ERK1, and MAP kinase signaling. Chondrogenesis and osteogenesis are two processes managed by these pathways and are greatly affected by a mutation (13-15). The sections of these pathways that involve and are affected by the mut...
Osteogenesis Imperfecta (OI), also called fragile bone ailment or Lobstein disorder, is an inherent bone issue portrayed by weak bones that are inclined to break effortlessly with practically zero cause. A arrangement of various sorts of OI is regularly used to depict how seriously a man with OI is affected.OI is brought on by hereditary deformities that influence the body's capacity to make solid bones. In predominant established OI, a man has too little sort I collagen or a low quality of sort I collagen because of a transformation in one of the sort I collagen qualities which makes the bones
Despite ongoing research, the cause of osteosarcoma is still unknown. Occurring in 2 persons per million per year (Michael et al., 2006) osteosarcoma is the most common primary tumor of the bone, but yet its incidence amongst malignant tumors is rare. However there are numerous factors that have been shown to effect prevalence. Osteosarcoma occurs predominantly in males, although the tumor does have a tendency to develop earlier in females (American Cancer Society, 2014). The risk of osteosarcoma is highest for people who are aged between 10 and 30. Most common however is during the teenage growth spurt, due to the rapid bone growth and higher chance of a mutation occurring in DNA replication. Height can also be a risk factor. Children with osteosarcoma are generally tall for their age, which again indicates a link to rapid bone growth. Osteosarcoma also appears to have a slightly higher prevalence in African Americans than other races. There is also evidence of genetic predisposition being a risk...
Achondroplasia is a genetic bone growth disorder. It is the most common form of disproportionate short stature, dwarfism. It occurs in one in every 15,000 to 40,000 births. The disorder is inherited in an autosomal dominant manner, but over 80% of cases are spontaneous mutations. The risk is increased with advanced parental age. Achondroplasia generates from a mutated FGFR3 gene. Unfortunately this disorder cannot be cured, but research is being dedicated to finding a cure. (Learning about Achondroplasia, May 11, 2012)
Osteoporosis is a condition, in which bones are weak from deterioration, loss of bone mass, and quality bone strength. Osteoporosis usually triggers postmenopausal women (women who have not had their period for a whole year), or older men and women. Some risks both older men and women endure when experiencing osteoporosis are decreased calcium and bone fractures. These symptoms or effects can all be caused by weight loss, smoking, age, ethnicity, genetics, medications, bone structure, and certain diseases that can later on contribute to osteoporosis, such as rheumatoid arthritis. Osteoporosis may be prevented by going to drug therapy to stop alcoholism and smoking, a sufficient amount of calcium intake, and exercising such as jogging, walking, and aerobics.
Osteoporosis is a serious disease that leads to a faster than normal loss of the bone density, which puts the bone at a higher risk for fractures. In order to understand the causes of Osteoporosis, it is important to understand how bones are formed. Bone is a living tissue that is made mainly of collagen, calcium phosphate, and calcium carbonate. The mixture of collagen and calcium gives the bone strength and flexibility. The body deposits new bones and removes old ones; moreover, there are two types of bone cells that control the reproduction of bones. Cells called osteoclasts breakdown bone tissues thus, damaging the bone. Once the damaged bone is removed, cells called osteoblasts, use minerals including calcium and phosphate from the blood stream to make new healthy bone tissues. In order for osteoblasts and osteoclasts to work properly, hormones such us thyroid, estrogen, testosterone, and growth hormones are
My patient is a 55-year-old woman presenting to the clinic complaining of episodes of feeling “hot and sweaty” during the day and is waking up at night soaked with perspiration. Because her sleep is so disrupted, she is tired all day and is having trouble concentrating at work. She says that the episodes are becoming unbearable and is seeking treatment for them. In a very thorough assessment I will gain information in regards to possible Osteoporosis.
Osteoporosis is a disease in which the bones become so weak and brittle that even a cough can cause enough stress on the bone that it will cause the bone to facture. The most commonly broken bones are the hip, wrist, and the spine. Although it affects men and women of all races, post-menopausal Caucasian and Asian women are more commonly affected than those of other ethnicities and sexes. In fact, thirty percent of all post-menopausal women in the US and Europe will be diagnosed with Osteoporosis and at least 40 percent of those will suffer from a fracture in their lifetime.
The genetic bone disorder, which has no cure, causes scar-like tissue to develop in place of normal bone, affecting the bone and causing it to deform or fracture, according to the Mayo Clinic. The boy's left arm and leg were the first place they discovered a problem.
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory
Osteoporosis Osteoporosis is a systemic, debilitating disease of the skeleton, characterized by significantly decreased bone mass in combination with the deterioration of bone microarchitecture. Osteoporosis has three types of categories, the first category is type 1 which occurs in women after menopause and results from declining levels of estrogen and other sex hormones in the body, this could also occur in men due to low levels of the sex hormone testosterone. Type 2 is called Senile Osteoporosis, which occurs in elderly men as well as elderly women because of decreased bone formation due to aging. Type 3 is caused by long-term use of medication, usually with steroids and drugs, to treat elipsy. Osteoporosis, which literally means “Porous Bone”, is a disease in which the density and quality of bone are reduced (Kackowski, 2013).
Fractures are life-threatening to aged people having the metabolic bone disease OSTEOPOROSIS, in which bones become porous and brittle. A person, mostly women, having osteoporosis may break a hip during a fall and possibly die from complications. Birth Defects Congenital bone diseases constitute a wide spectrum, ranging from the unimportant--for instance, mild bow legs--to severe lesions, such as spina bifida, in which the lower end of the spine fails to develop properly and the baby is born with paralysis and misshapen vertebrae. Congenital diseases may have hormonal bases: for example, fibrous DYSPLASIA, in which fibrous tissue replaces that of some bones, often results in bone deformity; in addition, some girls with this disease physically mature so early that they are capable of pregnancy and childbirth at the age of seven.
At least one mutation in the AKT1 gene has been found to cause Proteus syndrome, a rare condition characterized by overgrowth of the bones, skin, and other tissues. This mutation changes a single protein building block (amino acid) in AKT1 kinase. Specifically, it replaces the amino acid
Bone cancer can be hereditary even though it is a “rare type of cancer,” (McCoy 1). There are six different types of bone cancer including “Osteosarcoma, Chondrosarcoma, Ewing sarcoma, Fibrosarcoma, Giant cell tumor, and Chordoma.” (McCoy 1) Each type of bone cancer specifies different locations in the body. Bone cancer is either called “primary (starts in bone tissue) or secondary (it traveled to the bone from another area of the body),” (McCoy 1) “The main cause of bone cancer is unknown”, according to McCoy, but “genetics play a major role in some cases” (McCoy 1). Symptoms to watch out for this type of cancer include “deep bone pain severe enough to wake you up, fever or night sweats, pain at the tumor location, unexplained weight loss,