What is tuberous sclerosis?

What is tuberous sclerosis?
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by Danna Mann, Hartford Special Needs Examiner
Tuberous sclerosis is a group of two genetic disorders characterized by problems with the skin, brain/nervous system, and kidneys. There is also a predisposition to tumors. The diseases are named after a characteristic abnormal growth in the brain, which takes the shape of a tuber or root. Two genes have been identified that can cause tuberous sclerosis complex. Only one of the genes needs to be affected for TSC to be present. The TSC1 gene is located on chromosome 9 and is called the hamartin gene. The other gene, TSC2, is located on chromosome 16 and is called the tuberin gene. Researchers are now trying to determine what these genes do and how a defect in these genes causes tuberous sclerosis complex.

At least two children born each day will have tuberous sclerosis complex. Current estimates place tuberous sclerosis complex-affected births at one in 6,000. Almost 1 million people worldwide are known to have TSC, with approximately 50,000 in the United States. There are many undiagnosed cases due to the obscurity of the disease and the mild form symptoms may take in some people. TSC is as common as ALS (Lou Gehrig's Disease) but virtually unknown by the general population.

Some people are affected severely, while others are so mildly affected that it often goes undiagnosed. In some cases people with TSC experience developmental delay, mental retardation and autism. Although, there are also many people with TSC living independent, healthy lives.

The National Institute of Neurological Disorders and Stroke (NINDS) conducts TSC research in its laboratories at the National Institutes of Health (NIH) and also supports TSC research through grants to major medical institutions across the country. Scientists are putting focus on two major brain disorders --autism and epilepsy -- that occur in children with TSC. Other scientists are trying to determine what causes skin tumors to develop in individuals with TSC. Scientists hope knowledge gained from their current research will improve the genetic test for TSC and lead to new treatments, methods of prevention, and, ultimately, a cure.



Paternal age effect
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The paternal age effect describes the influence that a father's age has on the chances of conferring a genetic defect to his offspring. Generally, older men have a greater probability of fathering children with a genetic defect than younger men do. This is seen as likely due to genetic copying errors which may increase in number after repeated spermatogenesis cycles over a man's lifetime.


[edit] Disorders correlated with paternal age
Achondroplasia (dwarfism); craniofacial disorders such as Apert syndrome and Crouzon Syndrome; mental retardation of unknown etiologies; autism; bipolar disorder; and 25% of schizophrenia cases are correlated with advanced paternal age.

Other disorders related to advanced paternal age are:

Wilms' tumor
Thanatophoric dysplasia
Retinitis pigmentosa
Osteogenesis imperfecta type IIA
Acrodysostosis
Fibrodysplasia ossificans progressiva
Aniridia
Bilateral retinoblastoma
Multiple exostoses
Marfan Syndrome
Lesch-Nyhan syndrome
Pfeiffer Syndrome
Wardenburg Syndrome
Treacher-Collins Syndrome
Soto’s basal cell nevus
Cleidocranial dysostosis
Polyposis coli
Oculodentodigital syndrome
Costello syndrome
Progeria
Recklinghausen’s neurofibromatosis
Tuberous sclerosis
Polycystic kidney disease
Hemophilia A
Duchenne muscular dystrophy
Athetoid Cerebral Palsy
Dystonic Cerebral Palsy
Congenital Hemiplegia
Down syndrome
Bipolar disorder

[edit] References
Crow JF (1997). "The high spontaneous mutation rate: Is it a health risk?". PNAS 94: 8380–6. doi:10.1073/pnas.94.16.8380, http://www.pnas.org/cgi/content/full/94/16/8380.
Bertram L, Busch R, Spiegl M, Lautenschlager NT, Müller U, Kurz A (1998). "Paternal age is a risk factor for Alzheimer disease in the absence of a major gene". Neuroscience 1 (4): 277–80. doi:10.1007/s100480050041, http://www.springerlink.com/content/j2xvhj1r9c4vyh6h/.
Sipos A, Rasmussen F, Harrison G, Tynelius P, Lewis G, Leon DA, Gunnell D (2004). "Paternal age and schizophrenia: a population based (sic) cohort study". BMJ Online. PMID 15501901, http://www.bmj.com/cgi/content/abstract/bmj.38243.672396.55v1.
"DNA repair activity linked to paternal age effect". University of Texas Health Science Center at San Antonio (2000-08-28).
Bray I, Gunnell D, Smith GD (2006). "Advanced paternal age: How old is too old?". Journal of Epidemiology and Community Health 60: 851–3. doi:10.1136/jech.2005.045179, http://jech.bmj.com/cgi/content/abstract/60/10/851.
Montgomery SM, Lambe M, Tomas O, Ekbom A (2004). "Paternal age, family size, and risk of multiple sclerosis". Epidemiology 15 (6): 717–23. doi:10.1097/01.ede.0000142138.46167.69, http://www.epidem.com/pt/re/epidemiology/abstract.00001648-200411000-00011.htm;jsessionid=FTyPmJX2pQ0vndYv7JDFBhGxjJJcM6NbJ7XTtxh2LWfyx6nMnGGv!-2083468996!-949856145!8091!-1.
Reichenberg A, Gross R, Weiser M, Bresnahan M, Silverman J, Harlap S, Rabinowitz J, Shulman C, Malaspina D, Lubin G, Knobler HY, Davidson M, Susser E (2006). "Advancing paternal age and autism". Archives of General Psychiatry 63 (9): 1026–32. doi:10.1001/archpsyc.63.9.1026, http://archpsyc.ama-assn.org/cgi/content/abstract/63/9/1026.
Sanders L (2005). "College scientist named Ellison Senior Scholar". University of Southern California College of Letters, Arts & Sciences.
Fisch H, Hyun G, Golden R, Hensle TW, Olsson CA, Liberson GL (2003). "The influence of paternal age on down syndrome (sic)". J Urol 169 (6): 2275–8. doi:10.1097/01.ju.0000067958.36077.d8. PMID 12771769, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12771769&dopt=Abstract.
Rami B, Schneider U, Imhof A, Waldhör T, Schober E (1999). "Risk factors for type I diabetes mellitus in children in Austria". Eur J Pediatr 158 (5): 362–6. doi:10.1007/s004310051092. PMID 10333115, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=10333115&query_hl=22&itool=pubmed_docsum.
Singh NP, Muller CH, Berger RE (2003). "Effects of age on DNA double-strand breaks and apoptosis in human sperm". Fertility and sterility 80 (6): 1420–30. doi:10.1016/j.fertnstert.2003.04.002, http://cat.inist.fr/?aModele=afficheN&cpsidt=15380275.
Lauritsen MB, Pedersen CB, Mortensen PB (2005). "Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study". J Child Psychol Psychiatry 46 (9): 963–71. doi:10.1111/j.1469-7610.2004.00391.x. PMID 16108999, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16108999&query_hl=2&itool=pubmed_docsum.
Wohl M, Gorwood P (2007). "Paternal ages below or above 35 years old are associated with a different risk of schizophrenia in the offspring". Eur Psychiatry 22 (1): 22–6. doi:10.1016/j.eurpsy.2006.08.007. PMID 17142012, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=17142012&query_hl=13&itool=pubmed_docsum.
"Schizophrenia Research Forum: Current Hypotheses" (2006-03-28).
Choi J-Y, Lee K-M, Park SK, Noh D-Y, Ahn S-H, Yoo K-Y, Kang D (2005). "Association of paternal age at birth and the risk of breast cancer in offspring: a case control study". BMC Cancer 5: 143. doi:10.1186/1471-2407-5-143, http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1291359.
"NW Andrology & Cryobank".
Croen LA, Najjar DV, Fireman B, Grether JK (2007). "Maternal and paternal age and risk of autism spectrum disorders". Archives of Pediatrics and Adolescent Medicine 161 (4): 334–40. doi:10.1001/archpedi.161.4.334, http://archpedi.ama-assn.org/cgi/content/short/161/4/334.
Tarin JJ, Brines J, Cano A (1998). "Long-term effects of delayed parenthood". Human Reproduction 13 (9): 2371–6. doi:10.1093/humrep/13.9.2371, http://humrep.oxfordjournals.org/cgi/reprint/13/9/2371.

[edit] External links
MeSH Paternal+age