Born in 1864, he was a French artist who is well known for his posters and paintings of Moulin Rouge and Parisian nightlife. Toulouse-Lautrec was born into a rich family in Southern France who enjoyed hunting and horseback riding. At a young age, he suffered from severe pain in his legs and eventually had to withdraw from school and these activities. When Toulouse-Lautrec was 13, he suffered two falls which caused broken femurs. Throughout his young life his medical ailments were attributed to dampness, nerves, poor nutrition and rheumatism (Hodder, Huntley, Aronson, & Ramachandran, 2014). It wasn’t until 1965 when Drs. Maroteaux and Lamy diagnosed Toulouse-Lautrec with pycnodysostosis. This disease is an autosomal recessive disorder caused by a mutation in a gene on chromosome 1q21 (Hodder et al., 2014). Since Toulouse-Lautrec’s parents were first cousins, there is a great chance he inherited this disease. Pycnodysostosis is a genetic disorder of the bone caused by a mutation in the genetic enzyme cathepsin K and has been mapped by chromosome 1q21 (NHI Paper). The enzyme cathepsin K is very important in the normal function of osteoclasts and the reabsorption of organic bone matrix (Hodder et al., 2014); the lack of cathepsin K causes a disruption in the normal function of the osteoclasts. The mutation of this gene results in osteosclerosis. (ADD 3-4 MORE SENTENCES HERE ABOUT
Born in 1864, he was a French artist who is well known for his posters and paintings of Moulin Rouge and Parisian nightlife. Toulouse-Lautrec was born into a rich family in Southern France who enjoyed hunting and horseback riding. At a young age, he suffered from severe pain in his legs and eventually had to withdraw from school and these activities. When Toulouse-Lautrec was 13, he suffered two falls which caused broken femurs. Throughout his young life his medical ailments were attributed to dampness, nerves, poor nutrition and rheumatism (Hodder, Huntley, Aronson, & Ramachandran, 2014). It wasn’t until 1965 when Drs. Maroteaux and Lamy diagnosed Toulouse-Lautrec with pycnodysostosis. This disease is an autosomal recessive disorder caused by a mutation in a gene on chromosome 1q21 (Hodder et al., 2014). Since Toulouse-Lautrec’s parents were first cousins, there is a great chance he inherited this disease. Pycnodysostosis is a genetic disorder of the bone caused by a mutation in the genetic enzyme cathepsin K and has been mapped by chromosome 1q21 (NHI Paper). The enzyme cathepsin K is very important in the normal function of osteoclasts and the reabsorption of organic bone matrix (Hodder et al., 2014); the lack of cathepsin K causes a disruption in the normal function of the osteoclasts. The mutation of this gene results in osteosclerosis. (ADD 3-4 MORE SENTENCES HERE ABOUT