Narcolepsy gene mutation

Common Questions and Answers about Narcolepsy gene mutation

narcolepsy

Avatar n tn I was the first person diagnosed with IP, although it is believe my Great Grandma had it as well. I am a healthy, 24 year old woman. Although my dental history is beyond that of anyone's I know, and I do have marble scars with no pigmentation on my limbs, there is nothing to date that allows anyone to guess I have a genetic disease. At some point in the near future, I would like to have children. I fear that my children's case of IP would not be as mild as mine.
Avatar n tn The A1298C gene variant is found in the MTHFR gene. This gene produces an enzyme that is important in the metabolism of homocysteine, an amino acid. We all have two copies of the MTHFR gene, one from each parent. People with one copy of the A1289c gene variant are referred to as heterozygous. People with two copies of the A1289C gene variant are referred to as homozygous. Having two variants/mutations, such as A1298C, can cause elevated homocysteine levels.
Avatar n tn My wife has developed it--er/pr-ve,her2/neu+ve.What are the chances of my daughter who is 18 developing it.
Avatar n tn If so, it would be due to the clotting disorder/poor folic acid levels than the gene mutation itself, as the gene mutation (as it has been explained to me) does not cause defects, but it is the consequences of the mutation that does.
Avatar f tn Thank you for responding. I will continue to research the BRAC mutations, but I'm not understanding if my DIL's BRAC 2 mutation is a 'mutation of a mutation.' Any reading mateirals you could point me to would be most helpful; however, I know you are busy and will not be offended if you do not have time to answer this post. Thank you for confirming what I know. My DIL's prognosis is grim.
Avatar f tn There is a gene present in animals (humans, too) called the MDR1 gene. MDR stands for multi-drug resistance. This gene is responsible for encoding a protein called p-glycoprotein. The job of p-glycoprotein is to remove drugs and certain toxins from the brain. Dogs who have the MDR1 mutation cannot process these drugs correctly and remove them from their brains. This results in a buildup of neurotoxins that cause neurological symptoms ranging from seizures to coma and death.
1227139 tn?1462334630 When one has a genetic mutation involving MTHFR, they have something called a variant of that gene. There are 24 known variants to the mutation and they can cause no problem at all or have very serious health complications. There is a lot of debate and confusion regarding this genetic mutation and as a result a whole lot of medical studies on the topic. The following are a few of the more reliable sites regarding MTHFR and it's role in pregnancy (or loss of): http://www.medhelp.
Avatar f tn Of note, approximately 2% of people affected with SMA have one de novo mutation in the SMN1 gene, meaning that one mutation occurs sporadically, while the other is inherited from a carrier parent. About 95% of individuals affected with SMA have a deletion in a portion of the SMN1 gene called exon 7 in both copies of the gene. These individuals are said to be homozygous for this deletion.
Avatar m tn Pre-core and basal core promoter are mutations in the region of C gene that codes for the hepatitis B virus core protein, HBcAg. The C gene also codes for HBeAg if translation is started at the pre-core region of the C gene. Basically, pre-core mutation causes no HBeAg to be produced, and basal core promoter mutation reduces the production of HBeAg.
Avatar n tn After extensive testing it was determined the cause was the MTHR mutation homozygous gene. All other causes were ruled out. ( I spent two weeks in the hospital.) I am 50 years old, nonsmoker, appropriate weight, ate healthy and was very physically active. How could this happen? Thanks.
648243 tn?1246388918 The A1298C gene variant is found in the MTHFR gene. This gene produces an enzyme that is important in the metabolism of homocysteine, an amino acid. We all have two copies of the MTHFR gene, one from each parent. People with two copies of the A1289C gene variant are referred to as homozygous. Having two variants/mutations, such as A1298C, can cause elevated homocysteine levels.
Avatar f tn I am interested to learn if any here diagnosed with MS also have found that they have a gene mutation called MTHFR. It effects how the body processes folate.....and the long term effects are being connected with neurological diseases such as MS.
Avatar f tn The CCR5 gene mutation has been shown to provide partial and sometimes complete resistance to transmission of HIV. A very small portion of Europeans have this gene from either 1 or both parents.
Avatar n tn s mandatory to do testing first to see if it possesses the MDR1 gene mutation. If it does NOT, then ivermectin can be used to treat the mange. If it DOES possess the gene mutation, then treatment must be limited either to external treatments. Also, if your dog is a collie it CAN safely be given the heartworm preventative HeartGard because the dosage is low enough as to not be toxic.
Avatar f tn Its possible that your child may have Asperger's because it's biological uncle has it, but at the same time Asperger's could be a random gene mutation. Asperger's is interesting like that and could be misdiagnosed as ADHD.
Avatar f tn (Adopted) I am just wondering if there is any other moms out there with the possibility of passing a genetic mutation down to there baby. I have TSC and I am the first in my family to have this and I also have a 50/50 chance of passing this on to my baby. I am super happy to be pregnant but I am stressed for what the future might hold. I had ultrasound at 7 weeks and 1 day and baby looked great HB was 144 which tech. Said is good. Thanks for reading just looking for other moms support!
Avatar n tn The amplification of the cERBB2 gene in breast cancer cells is associated with a more aggressive cancer phenotype. This gene is amplified in about 20 - 30% of cases. At the present though, two drugs already target the overexpressed protein. These drugs are Herceptin and Lapatinib and has been shown to improve outcomes in breast cancer patients.
Avatar f tn A person may either be born with a genetic mutation in all of their cells (germline mutation) or acquire a genetic mutation in a single cell during his or her lifetime. An acquired mutation is passed on to all cells that develop from that single cell (called a somatic mutation). Most melanomas (about 90%) are considered sporadic, meaning that the damage to the genes occurs by chance after a person is born.
Avatar m tn I have 2 daughters, one has the C677T mutation of MTHFR and the other daughter has the C677T and A1298C. I am confused about what this really means. The daughter with only the C677T was born with 2 holes in her lower back. How can I find out what I need to do to help them?