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Genetics Presentation 9/19/12

Marissa Dobis

on 6 November 2012

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Transcript of Toulouse-Lautrec

Henri de Toulouse-Lautrec
Pycnodysostosis Henri de Toulouse-Lautrec His Life Henri was the first child to survive infancy and was the adored child of all the family.

There was something different about Henri. He was only ten pounds when he was six months. He was also only 4 feet, 8 inches when he was 13!

At the age of 3 he began drawing Henri moved to Paris to do more artwork.

He captured the Parisians by breaking from the dominant style at the time.

In an artistic span of less than 20 years, Henri produced 737 canvases, 275 watercolors, 368 prints and posters, and 5,084 drawings. Career Speculated Diseases
Henri de Toulouse-Lautrec Achondroplasia- a disorder of bone growth that causes the most common type of dwarfism

Osteogenesis Imperfecta- the bones of affected persons break almost without being stressed

Epiphyseal Dysplasia- a disorder of the growth plates of the long bones Pycnodysostosis is an autosomal recessive osteochondrodysplasia

Characterized by osteosclerosis and short stature

Maps to chromosome 1q21

Pycnodysostosis results from gene defects in a lysosomal protease

Highest expression in osteoclasts “Dense bones”

Described by Maroteaux and Lamy in 1962

They claimed that Toulouse-Lautrec had the condition What is
Pycnodysostosis? Pycnodysostosis Symptoms seen in Toulouse-Lautrec and living patients:
Tendency to fracture leg bones
Small stature
Large head with prominent forehead
Dental problems Pycnodysostosis 1996- the New York team clones the gene
Disorder is caused by deficits in a gene that makes a protein called cathepsin K
Used by osteoclast which are responsible for remodeling bone Pycnodysostosis 1995- Bruce Gelb and Bob Desnick
Mount Sinai School of Medicine in New York
Used new DNA mapping techniques in an Arab family with many affected and many consanguineous marriages
Culprit gene is located somewhere in a small region of the long arm of chromosome 1 Cathepsin K is a highly expressed cysteine protease in osteoclasts that plays an essential role in the degradation of protein components of bone matrix.

Cathepsin K is also expressed in a significant fraction of human breast cancers where it could contribute to tumor invasiveness. Pycnodysostosis
Other Disorders Dr. Robert Desnick thinks Toulouse-Lautrec was affected by pycnodysostosis.

Descendants of Toulouse-Lautrec are reluctant to be tested and have ruled out exhumation of remains.

We may never know if Toulouse-Lautrec suffered from pycnodysostosis. Did Toulouse-Lautrec Have Pycnodysostosis? People with pycnodysostosis do moderately well.
Physical Therapy
Orthopedic Surgery Pycnodysostosis Today Works Cited "Henri De Toulouse-Lautrec." JSTOR. JSTOR, n.d. Web. 9 Sept. 2012. <http://www.jstor.org/stable/4380972?&Search=yes&searchText=de&searchText=Henri&searchText=lifetime&searchText=Toulouse-Lautrec&list=hide&searchUri=%2Faction%2FdoAdvancedSearch%3Fq0%3DHenri%2Bde%2BToulouse-Lautrec%26f0%3Dall%26c1%3DAND%26q1%3Dlifetime%26f1%3Dall%26acc%3Don%26wc%3Don%26Search%3DSearch%26ar%3Don%26re%3Don%26sd%3D%26ed%3D%26la%3D%26jo%3D&prevSearch=&item=2&ttl=71&returnArticleService=showFullText>.

Linking Osteopetrosis and Pycnodysostosis: Regulation of Cathepsin K Expression by the Microphthalmia Transcription Factor Family G. Motyckova, K. N. Weilbaecher, M. Horstmann, D. J. Rieman, D. Z. Fisher and D. E. Fisher Proceedings of the National Academy of Sciences of the United States of America , Vol. 98, No. 10 (May 8, 2001), pp. 5798-5803

Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency Bruce D. Gelb, Guo-Ping Shi, Harold A. Chapman and Robert J. Desnick Science , New Series, Vol. 273, No. 5279 (Aug. 30, 1996), pp. 1236-1238 Childhood
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