Mitochondrial Disorders | Ask the Geneticist (SM)

Q&A about genetic disorders that result from a defect in the function of the mitochondria. Mitochondria create energy for cells and contain their own DNA, separate from the DNA found in the nucleus of a cell. Mutations in mitochondrial genes (and in some cases nuclear genes) cause mitochondrial diseases. Examples include Leigh disease and Leber hereditary optic neuropathy.

Other information about mitochondrial disorders:

-United Mitchondrial Disease Foundation

http://www.umdf.org/site/c.dnJEKLNqFoG/b.3041929/k.BF32/Home.htm

Subtopics

Cyclical vomiting syndrome (CVS) (2) General Questions on this topic (3) Hemihypertrophy (1) Leber hereditary optic neuropathy (LHON) (6) Leigh disease (2) MELAS (10) MERRF (1) MTHFR (1) Maternally inherited diabetes and deafness (1) Miscellaneous/Unclear Diagnosis (7) Neuropathy, ataxia, and retinitis pigmentosa (NARP) (2) No Sub-topic (0) Showing 36 questions

Displaying: All questions - use the list above to filter results.


	Question		Date



	We have a 37yo female who developed multiple seizures at 29 weeks gestation, eventually admitted to local Academic Institution where she had MRI's, skin/muscle+brain bx, and many lab tests--all unrevealing. Current thinking is that she has a sporadic case of MELAS. The baby was delivered at 36 weeks and now has evidence of some type of genetic disorder (I don't have all the info yet). Question is: if the patient does indeed have MELAS, what is the possiblity of the male baby having the same problem. View Answer		2009-11-16


	could you please tell me what genetic test i wold have done to see if i am a carrier? i am trying to find out if there is any chance my children could be carriers if I am. My mother and brother have Lebers. Also an aunt and one of her two sons. thanks View Answer		2009-11-14


	Hi, I was wondering if Leber's Hereditary optic neuropathy is recessive or dominant, and if this disease is autosomal or sex-linked? Also, if there is any additional information you might know about this disease that people do not know about, can you please give it to me. Thank you. View Answer		2009-10-29


	I have an intolerance to sulfites and read some where that I may have a deficency with mitochondrial enzyme in my system. I can not find on the internet where I read that so I need to ask you if that could be the case. View Answer		2009-09-26


	Dear Genetecist, I am the mother of a 23 year old son who has had Cyclic Vomiting Syndrome since age 3. He was undiagnosed until age 13 because he was treated by his pediatrician with Compazine inj., IV and recovered immediately. Also, I had the same condition as a child but never had a name for it and we just thought he was "just like me". At age 13 we relocated, he reacted badly to Compazine, his condition spiraled downward to a point where he couldn't recover due to anxiety reactions, more vomiting, viscious cylcles of hospitalizations and misdiagnosis. I was blamed for making him sick (not a shred of evidence) and he was taken from me. He has P.T.S.D. from years of hospitalizations and misdiagnosis. (was treated as a behavior disorder) He has since cut off ties with me. I've always known that he "got it from me" but now read that there may be scientific truth to it. Is there any info. you can send to help us heal from the fall-out of what may indeed be a genetic disease? View Answer		2009-09-21


	Dear collegues, I have some questions about analysis we've done to my daughter(5 old) to find out the reasons for her deleyed development. The last results from lab. was: in mtDNA from leucocytes in periferal vene blood not found mutations and werw excluded these most common syndromes-MELAS, encephalopathia/MELAS, mitochondrial myopathies, MERRF, NARP/Leigh disease. It is found A4793G polymorfism and single nucleotid supstitution A4761G in MT-ND2 gene wich load to AK supstitution 11e->Val. I can't understand all these, what dose it means, does my daughter have mitochondrial disease as the doctors said during observation? Where can I find some details about this? Thank you, Best regards View Answer		2009-09-07


	I have a four month old boy with hemihypertrophy. Just had an abdominal ultrasound done on him which came back normal. He was a 22 inches & 9 pounds at birth with 39 week gestational age. His hemihypertrophy affects his arms & legs. His abdomen is rather large. I understand that to be seen by a geneticist, there is a few months waiting currently. Meanwhile, what would need to be done, so I can provide him with proper care? His pediatrician is under impression that there is no urgency for immediate treatment. Thank you for your time. View Answer		2009-07-10


	Thanks for the fast reply to my questions! I found that site after I send the email to you! This site help me very much, answered many question I previosly had, and found many infos I needed! But still didn't answered the most important! The question is : ''Is a person diagnosed with Leber?s hereditary optic neuropathy (LHON) will partially blind for a long period of time or will it progress into that individual becoming permanently blind? I shall live my life with the fear that one day of my life may become blind? I read to an other site that this stigma, once the phase of eyesight loss is over, the eyesight usually stays the same. Is this true? If yes, when this phase is over? In which age?'' P.S: I don't have this stigma, but a family member of me which is female, because there is some differents between the 2 sex. Thank you very much, again, in advance for your time and efforts in helping me discover the answers i am looking for. View Answer		2009-06-09


	Dear Sir Last year my 9 years old daughter,had the first period of vomitting. Then after 5 months, the headache, vomitting repeated regulary in the periods of month apart. The distorder more or less last the same lenght of time, most often it starts when she gets infections. We spent some time in different hospitals and the diagnosis is : CVS ( Cyclical Vomiting Syndrome ). One of the theory is that CVS is caused by some of the DNA mitochondrial " problems " . Do you have any knowledge, experiance about that ? Can you provide me any information.I thank you in advance. View Answer		2009-05-06


	My daughter died of MELAS related ilnesses in 1990 as a 19 year old. It is possible that I am the carrier as my son, although fit and well, has ADHD and has suffered from periodic headaches. He chooses not to be tested but a CT scan showed some calcification of the Basal Ganglia, common in MELAS patients I am told. My problem is that I have recently been diagnosed with very high, infact borderline, high iron levels. Do you have any evidence of a connection to MELAS and high blood iron? I am a fit and well 60 year old. many thanks View Answer		2009-03-22


	Do you have any information you can share about POLG gene mutations in Mitochondrial Disorders? I am especially interested in the most common mutation and the Ataxia/Neuropathy mutation. View Answer		2009-02-18


	My older sister has had 5 strokes and is now being tested for Melas. She is 44 years old and has a daughter that is 10 who has shown no signs of Melas, is this nomal? What are the chances that my daughters or I will have this? View Answer		2009-02-16


	hi, I've just learned that my daugther have MELAS syndrome. I know that syndrome is passed from mother to mother. My question is: Does it mean that my 3 other sisters necessarily have passed on this gene responsible of this syndrome to their daughter? View Answer		2008-12-19


	My mother was just diagnosed with Melas Syndrome. I was wondering if this disorder is passed on genetically. Is it possible that I have it? Or that my 16 month old son could have it? View Answer		2008-12-04


	I want to ask if there is preventive measure of the NARP. Can a woman who wants to have baby check her DNA sequence first so as to avoid having baby with NAPR? Is this work? or is there any applicable checking? Thank you. View Answer		2008-11-14


	In autumn 2007, I learned that I have MELAS syndrome. This is the situation: my mother comes from of a family of three sisters, so my cousin is the daughter of the sister of my mother (the three sisters have the same mother). I?ve learned that my cousin, she is 27, thinks about having a baby, and I want to know if there a risk for her baby to have MELAS syndrome? My other aunt have a little girl, she is 4 years old, is there a risk that she have MELAS syndrome? View Answer		2008-10-20


	I have a 37 year old daughter who had a muscle biopsy and it showed that she has mitochondrial disease. Now my question is where does this come from? We have not been told if it comes from just the mother's side or father's side or both sides. Could you please advise me. I have read different things on Mitochondria but it has only confused me and I still am not sure it this comes from my side of the family. Although we have the most of the symptons of my side. Thank you View Answer		2008-09-06


	Hi, I was diagnosed through blood in 1997 with MtDNA point mutations in MERRF #8344 (tRNA lys A--G) (POLYMORPHISM)but had an 8249 RFLP, AND, LHON #13708(ND5 G--A) (secondary mutation). Please note: My results mention that "the occurrence of an RFLP (restrictive fragment length polymorphism) does not support the finding of a mutation or even the identification of a new mutation and may represent a normal variation". This was back in 1997. Today, with advances made in genectics, in your opinion, can this RFLP be symptomatic and do I have MERRF?? Also, can my LHON be symptomatic as well? I am not looking for medical advice, just your professional opinion. To be quite honest, in my heart of hearts, something is going on with my health and I know it's most likely Mito related. I have a host of problems, most wax & wane, ranging from GI issues, muscle twitches/jerks, muscle pain, SVT's, knee pain/swelling, left eye irritation, brain fog, etc. Thank you. View Answer		2008-07-27


	My 21 year old son was diagnosed with MELAS in Sept- onset with grand mal seizure, did not regain consciousness for 4 days, extremely high lactic acid- previous hearing loss and small stature.after a 3 week recovering in hospital, return to normal life. ( 3rd year college). Muscle biopsy showed ragged muscle fibres and gene testing determined MELAS. Has recently had another "episode" with vomiting, no seizure, altered consciousness, staggering gait, headaches, extreme tiredness. This episode has not been as serious as the last one. Our question is " How long will it take for him to feel back to normal again? View Answer		2008-04-10


	My wife was suffering from multiple symptoms related to MELAS Syndrome and CADASIL. She suffered a stroke and was hospitalized on October 16, 2007. She passed away on November 3, 2007.I am fighting tooth and nail with Group Health Plan over the MELAS testing that was done for her in August 2007. They are claiming it as "experimental and/or investigational" - therefore not covered. Dr. Logan over several months ruled out MS, simple stroke, etc. and was puzzled and down to a diagnosis of CADASIL or MELAS. It was determined to go after MELAS first - based on the symptoms (many of the 33 identified). The test was ultimately negative.I ask - in your opinion - do you consider DNA testing for MELAS as experimental and/or investigational when the patient is symptomatic and other disorders have been ruled out? View Answer		2008-02-23


	I have been diagnosed with mitocondrial disease (?) I am 65 years old with MS and/or diabetic symptoms. (Glucose swings from 200 to 56 with 190 to 65 normal) I am losing my leg function and my eyes. I have been referred by Dr Gordon to the clinic. Why will it buy me? What are the chances for any improvement? What is an estimate of costs? How much time estimated? View Answer		2007-12-04


	Recently my dauther 2 years old had got effected with epilepticus and admited in the pediatric hospital.Now she is out of danger from the life as per doctor instruction.during the treatment they did CT scan and found Brain injury and investigation done Brain MRI scan and in the report says suspected MELAS(Mitocondrial Disorder). Further they did Muscle biopcy test and the results are normal.Also sent the blood sample to Sir Gangaram Hospital New Delhi for GENETICS MELAS test and waiting for the report.Now the baby is Blind and liquids are feeding by mouth . Please suggest me how can i proceed further. Before this incident baby is very active and we don't observe such things in my family as well as my wifes family. We have one more son 6 years old and he is fine. Now the baby is under meditation of Tegrital syp, Piracitam syp and Asprin Tab 75mg.Please give your valuable suggessions. View Answer		2007-11-28


	My sister gave birth to 3 children with Melas syndrome (all of them died in the age of 3,5 years old). My brother's son (1 year old) is OK. His development is normal. I'm pregnant now (8 weeks). What are my chances to have a baby with this disorder? Thank you in advance for your reply. View Answer		2007-11-06


	IF MY NEPHEW (MY SISTER'S SON) CAME DOWN WITH LHON AND WAS GIVEN THE DIAGNOSIS WOULD MY SON NECESSARILY HAVE THE GENETIC MUTATION AS WELL? I AM TRYING TO DECIDE WHETHER TO TEST MY CHILDREN WHETHER OR NOT ALTHOUGH OUR OWN IMMEDIATE FAMILY IS SHOWING NO SYMPTOMS. View Answer		2007-07-19


	I just found out that Someone in my family (my mom's 2nd cousins grandson) who is now 15 went blind & was diagnosed with LHON. I am now a 36 yrs old male, I don't smoke, I occationally drink & I have good vision. Is there a chance that I can still be affected at my age or would it be extreamly rare to happen? Is there a way to be checked prior to any symptom? I would also like to add that in over 5 generations there has only been 1 person who was affected in my family. View Answer		2007-04-24


	My grandchild may have NARP. I adopted her mother. It is my understanding that this is a maternal genetic disorder and that my daughter could be a carrier. Would have birth mother have had to have had known symptoms or could she, too, have been just a carrier? I know that it is not curable, but how treatable is it? Is it possible that my grandfchild could lead a reasonably normal life? Right now her only symptoms are head bobbing and vertical nystagmas - which occurs only when she is tired. She can sleep for even just 15 minutes and everything goes back to normal - sometimes for hours - until she gets tired again. She is developing normally in all other ways. View Answer		2007-04-13


	I have lost a child to oxphos II deficency ,diagnosed in Atlanta. Genetic testing on him was negative fo mDNA abnormaities, testing was done at Baylor. I have found a clinic in the Netherlands that offers prenatal oxphos screen, do any of the US labs also offer this testing? View Answer		2007-04-04


	My friend lost one daughter to mitochondrial. The second daughter at age 3, is showing signs of same. Is there any way to perdict how long before the eventual demise takes place.Can periodic blood test reveal anything ( a specific marker, protien or ?), such as in cancer patient, oncologists look for a tumor marker (CEA) or can a periodic biopsy of a suspected muscle reveal anything. View Answer		2007-03-18


	Is it ever possible for an MRI to have show classic signs of Leighs disease and the MRI be interpreted wrong where the child does not have it? What EXACTLY is needed to confirm Leigh's disease? View Answer		2006-12-25


	A client of mine who is only 15 years old has MERRF syndrome. I can't seem to find information on this disease without the description leading into another similar disease. I was curious, has it been proven if one parent imparticular is the primary carrier of this disease? I have been told that with MERRFs it is only the mother who has the potential to pass this on. Is this true? View Answer		2006-12-18


	My 7 yr old son was dx @ 2yr as severely autistic. At 6 yr old he was also dx with Mitochondrial Encephalomyopathy with Defects on Complex I &III. Cog. age 12-15 months. He changes neurologically with every illness or cyclic vomiting/diarrhea epidode. (His like/dislikes,food texture pref.,ect). He often becomes very self injurious(hitting cheeks,chin,mouth, forehead) uncontrollably(compulsively). None of his MD's seem to know whether this stims from the autism or the Mito disorder. Is it plausible that it is due to the Mito? Since it only occurs with illness? If so, what possibilities are there to control the neuro changes?(symptom control) View Answer		2006-11-17


	My son passed away at 15 months on 9/23/06. We were just told that the autopsy revealed symmetrical lesions on the brain stem - indicative of Leigh Syndrome. The workup for the mtDNA has already begun and the test for Pyruvate Dehydrogenase will be sent soon. Is there any test available to look for the autosomal recessive gene that my husband and I may have passed on to our son? We understand the autosomal recessive inheritance offers the best odds for future children but have not been told of any way to confirm that was how our son inherited the disorder. In addition, I am currently 17 weeks pregnant. Is it possible to check the amniotic fluid for the autosomal recessive gene? View Answer		2006-11-05


	Is Leber Hereditary Optic Neuropathy the same thing as Lebers Congenital Amarosis? View Answer		2006-09-15


	what is the molecular diagnosis and treatment of the myoclonus epilepsy with ragged red finer disease? View Answer		2006-07-11


	My husband has just been diagnosed with maternally inherited diabetes and deafness (MIDD) testing positive for the m.3243A>G mitochondrial mutation. Is there any treatment or supplements you can reccomend. He was using insulin, for about 3 years as a normal diabetic, but has not needed it for a year now as his blood sugars are fairly low average 6.5. He has lost a lot of weight and muscle though and gets quite tired. View Answer		2006-06-08


	After 18 years of bizarre symptoms and all the complex problems of neuro problems, severe migraines, paralysis, myclonic jerking, tremors, fatigue and no heat tolerance for 18 years, neurologists are telling me I may have MERRF or MELAS. I am waiting on a mitochondrial defeciency test. Will this tell them something as to if I have a mito disease? I had a muscle biopsy in 1991, normal. View Answer		2005-09-14

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