5Q- Syndrome
MDS (Myelodysplastic Syndrome) Variant
Jorge Jimenez
BSC1010
What is 5Q- Syndrome?
5Q- minus syndrome is a type of MDS, it's not inherited and is considered a mutation. It causes a large portion (about 1.5M base pairs) to be left out of the end of the 5th chromosome (Q region, hence name).
Frequency, and predispositions
5Q- syndrome is very uncommon, and only occurs in about 1 out of 20,000 people (0.005% chance). It is also not inherited but rather a mutation making it completely random.
Predispositions such as leukemia do exist, this is largely linked to the bone marrow not being able to function correctly. However people that are affected by the 5Q- syndrome are less likely to have it convert to AML (Acute Myelogenous Leukemia) than any other person with another similar disease/syndrome.
Risk factors/Causes
It is not know exactly what causes 5Q- syndrome or if it is caused by a certain factor. However mutations of these kind are linked to certain risk factors (during embryonic development). These risk factors include: Obesity; Aging, Chemicals (Prior leukemia carriers), Toxins (Those found in cigarettes), and Radiation. It is also more likely to occur if the woman is over the age of 67.
Cause Of Problems
5Q- syndrome is a fairly large and complicated deformity, it causes about 1.5 Million base pairs to be left out of the chromsome. This causes about 40 genes to be missing, these genes play a crucial role in blood cell development. One of the genes lost is the MIR145 or MIR146A, the loss of this gene causes promotion of immature cell growth and platelet abnormality.
History/Discovery
5Q- Syndrome was first discovered in 1974 when Van De Bergh observed genetic material from a carrier and discovered that the long arm from chromosome 5 was missing. He observed that this deletion was consistent with high platelet count, low red blood cell production, and various other blood/bone marrow deformities.
Diagnostics
Diagnosing 5Q- syndrome can be difficult due to it's similar symptoms to other types of blood syndromes. The only way to be 100% sure is to do DNA testing, this process involves extracting the DNA of a patient and observing the 5th chromosome for the deletion of the 1.5 megabases.
Cure?
There is no way of recovering the 1.5 megabases lost, thus not completely curing it. There is however various medications that can aid in the problems that 5Q- syndrome can cause. If a 5Q- syndrome patient were to dip critically low in blood cells or platelets they can receive transfusions. Antibiotics can also aid by reenforcing the compromised immune system.
Citing
"Myelodysplastic Syndrome (MDS) - Deletion 5q." Leukaemia, Lymphoma, Myeloma & Related Blood Disorders. N.p., n.d. Web. 7 Apr. 2016. <http://www.leukaemia.org.au/blood-cancers/myelodysplastic-syndrome-mds/mds-del5q>.
"5q minus syndrome." Genetics Home Reference. U.S. National Library of Medicine, n.d. Web. 6 Apr. 2016 <https://ghr.nlm.nih.gov/condition/5q-minus-syndrome>.
"del(5q) in myeloid neoplasms." Atlas of Genetics and Cytogenetics in Oncology and Haematology. Ed. Christiane Charrin. N.p., n.d. Web. 6 Apr. 2016. <http://atlasgeneticsoncology.org/Anomalies/del5qID1092.html>.
Citing
"Myelodysplastic Syndrome With Isolated 5q Deletion (5q- Syndrome). A Clonal Stem Cell Disorder Characterized By Defective Ribosome Biogenesis." European Hematology Association. Ed. Mario Cazzola. N.p., July 2008. Web. 7 Apr. 2016 <http://www.haematologica.org/content/93/7/967>.
"CHROMOSOME 5q DELETION SYNDROME." Online Mendelian Inheritance in Man. N.p., n.d. Web. 7 Apr. 2016. <http://www.omim.org/entry/153550>.
5Q- Syndrome MDS (Myelodysplastic Syndrome) Variant Jorge Jimenez BSC1010
Copy of 5Q- Syndrome
By Jorge Jimenez
Copy of 5Q- Syndrome
- 1,100
