More than 15yrs spiraling into this medical quandry like Alice slipping into Wonderland.
Stella finds some purpose in chronicling her personal health journey with Dercums Disease & comorbities.
Sunday, June 1, 2014
Dercums is Autosomal Dominant (descendants take note)
Autosomal dominant is one of several ways that a trait or disorder can be passed down through families.
If a disease is autosomal dominant, it means you only need to get the abnormal gene from one parent in order for you to inherit the disease. One of the parents may often have the disease.
Information
Inheriting a disease, condition, or trait depends on the type of chromosome affected (autosomal or sex chromosome). It also depends on whether the trait is dominant or recessive.
A single, abnormal gene on one of the first 22 nonsex chromosomes from either parent can cause an autosomal disorder.
Dominant inheritance means an abnormal gene from one parent can cause disease, even though the matching gene from the other parent is normal. The abnormal gene dominates.
Each child’s risk is independent of whether their sibling has the disorder or not. For example, if the first child has the disorder, the next child has the same 50% risk of inheriting the disorder. Children who do not inherit the abnormal gene will not develop or pass on the disease.
If someone has an abnormal gene that is inherited in an autosomal dominant manner, then the parents should also be tested for the abnormal gene.
Examples of autosomal dominant disorders include Huntington's disease and neurofibromatosis-1.
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Has something been discovered since 2012 about genetics & dercums? The latest research I know of says, "The majority of the cases of Dercum’s disease occur sporadically. A to G mutation at position A8344 of mitochondrial DNA cannot be detected in patients with Dercum’s disease. HLA (human leukocyte antigen) typing has not revealed any correlation between typical antigens and the presence of the condition." More at Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444313/
ReplyDeleteIf most cases are sporadic (not inherited) and no genetic mutation has been discovered, is it premature to claim it is a genetic mutation passed on to children? I think it's possible, Dercums may be a genetic mutation passed on to children, but without proper research it's impossible to know for sure. For example, my father was diagnosed with a type of blood cancer that they used to believe was inherited. It ran in families, so it seemed obvious that it was indeed inherited. Years of research proved it was not. They have now proven that type of cancer is caused by exposure to pesticides and not passed down to new generations. New cases in families were acquired, not inherited. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes (mutations occur either randomly or due to some environmental exposure). The latest research I know of says, "[Dercums] might be an autosomal dominant disorder". Do you know of research proving it is? I like to keep up to date on Dercums. Have the researchers discovered something new since 2012? Have they proven that dercums is an autosomal disorder? Thanks :).
http://www.sciencedaily.com/releases/2014/05/140522123503.htm?utm_source=feedburner&utm_medium=email&utm_campaign=Feed%3A+sciencedaily+%28Latest+Science+News+--+ScienceDaily%29#
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