diabetestalk.net

Mitochondrial Diabetes Symptoms

Endocrine Disorders In Mitochondrial Disease

Endocrine Disorders In Mitochondrial Disease

Open Access under CC BY-NC-ND 3.0 license This article has been cited by other articles in PMC. Endocrine dysfunction in mitochondrial disease is commonplace, but predominantly restricted to disease of the endocrine pancreas resulting in diabetes mellitus. Other endocrine manifestations occur, but are relatively rare by comparison. In mitochondrial disease, neuromuscular symptoms often dominate the clinical phenotype, but it is of paramount importance to appreciate the multi-system nature of the disease, of which endocrine dysfunction may be a part. The numerous phenotypes attributable to pathogenic mutations in both the mitochondrial (mtDNA) and nuclear DNA creates a complex and heterogeneous catalogue of disease which can be difficult to navigate for novices and experts alike. In this article we provide an overview of the endocrine disorders associated with mitochondrial disease, the way in which the underlying mitochondrial disorder influences the clinical presentation, and how these factors influence subsequent management. Keywords: Mitochondrial disease, Endocrine, mtDNA, Diabetes, m.3243A>G The term mitochondrial disease refers to a heterogeneous group of multi-system disorders characterised by mitochondrial respiratory chain deficiency in which neurological involvement is often prominent ( McFarland et al., 2010; Ylikallio and Suomalainen, 2012 ). Numerous distinct genotypes give rise to varied and overlapping phenotypes. Endocrine dysfunction is a frequent feature, predominantly due to the prevalence of diabetes mellitus associated with the m.3243A>G mutation, the most common heteroplasmic mtDNA mutation associated with human disease ( Schaefer et al., 2008 ). Other forms of endocrine disease are described less frequently, occurring in numerous mitochondrial di Continue reading >>

Diabetes And Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-like Episodes (melas): Radiolabeled Polymerase Chain Reaction Is Necessary For Accurate Detection Of Low Percentages Of Mutation

Diabetes And Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-like Episodes (melas): Radiolabeled Polymerase Chain Reaction Is Necessary For Accurate Detection Of Low Percentages Of Mutation

The Journal of Clinical Endocrinology & Metabolism Diabetes and Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): Radiolabeled Polymerase Chain Reaction Is Necessary for Accurate Detection of Low Percentages of Mutation Departments of Pediatrics (M.L.S., D.L.M., R.H.H.), San Diego, California 92093 Search for other works by this author on: Neuroscience, (X-Y.H., R.H.H.), University of California, San Diego, California 92093 Search for other works by this author on: Departments of Pediatrics (M.L.S., D.L.M., R.H.H.), San Diego, California 92093 Search for other works by this author on: Medicine (D.L., K-Y.N.), San Diego, California 92093 Search for other works by this author on: Department of Molecular and Medical Genetics, Oregon Health Sciences University, (N.G.K.), Portland, Oregon 97201 Search for other works by this author on: Medicine (D.L., K-Y.N.), San Diego, California 92093 Search for other works by this author on: Departments of Pediatrics (M.L.S., D.L.M., R.H.H.), San Diego, California 92093 Neuroscience, (X-Y.H., R.H.H.), University of California, San Diego, California 92093 Address all correspondence and requests for reprints to: Richard H. Haas, Department of Neurosciences, Division of Pediatric Neurology, University of California, San Diego, 9500 Gilman Drive, Department 0935, La Jolla, California 92093-0935. Search for other works by this author on: The Journal of Clinical Endocrinology & Metabolism, Volume 82, Issue 9, 1 September 1997, Pages 28262831, Margaret L. Smith, Xiao-Yun Hua, Deborah L. Marsden, Dou Liu, Nancy G. Kennaway, Kim-Yen Ngo, Richard H. Haas; Diabetes and Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): Radiolabeled Polymerase Chain Reaction Is Necessary for A Continue reading >>

Maternally-inherited Diabetes With Deafness (midd) And Hyporeninemic Hypoaldosteronism

Maternally-inherited Diabetes With Deafness (midd) And Hyporeninemic Hypoaldosteronism

CASE REPORT Diabetes mitocondrial (MIDD) e hipoaldosteronismo hiporreninêmico Patricia B. Mory; Marcia C. dos Santos; Claudio E. Kater; Regina S. Moisés Disciplina de Endocrinologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (Unifesp-EPM), São Paulo, SP, Brazil SUMMARY Maternally-inherited diabetes with deafness (MIDD) is a rare form of monogenic diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A>G) in the mitochondrial-encoded tRNA leucine (UUA/G) gene. As the name suggests, this condition is characterized by maternally-inherited diabetes and bilateral neurosensory hearing impairment. A characteristic of mitochondrial cytopathies is the progressive multisystemic involvement with the development of more symptoms during the course of the disease. We report here the case of a patient with MIDD who developed hyporeninemic hypoaldosteronism. Arq Bras Endocrinol Metab. 2012;56(8):574-7 SUMÁRIO O diabetes mitocondrial (MIDD) é uma forma rara de diabetes monogênico resultante, na maioria dos casos, da mutação mitocondrial A3243G. Essa condição é caracterizada por diabetes de transmissão materna e disacusia neurossensorial. Uma característica das mitocondriopatias é o envolvimento progressivo de outros órgãos ou sistemas, levando ao aparecimento de diversos sintomas durante o curso da doença. Este relato descreve o caso de um paciente com MIDD que, durante o período de acompanhamento, apresentou hipoaldosteronismo hiporreninêmico. Arq Bras Endocrinol Metab. 2012;56(8):574-7 INTRODUCTION Maternally inherited diabetes and deafness (MIDD) (OMIM # 520000) is a rare form of diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A> Continue reading >>

Mitochondrial Disease Clinical Manifestations: An Overview

Mitochondrial Disease Clinical Manifestations: An Overview

Mitochondrial disease clinical manifestations: An overview Issue: BCMJ, Vol. 53, No. 4, May 2011, page(s) 183-187 Articles Andre Mattman, MD, FRCPC , Sandra Sirrs, MD, FRCPC , Michelle M. Mezei, MDCM, FRCPC , Ramona Salvarinova-Zivkovic, MD, FRCPC, FCCMG , Majid Alfadhel, MHSc, MD, FCCMG , Yolanda Lillquist, MD, FRCPC Both pediatric and adult-onset mitochondrial disease can range from mild to severe and can involve more than one organ system. ABSTRACT: Mitochondrial diseases are a heterogeneous group of disorders that can affect multiple organs with varying severity. Symptoms may be acute or chronic with intermittent decompensation. In childhood-onset disease, there is often a history of global developmental delay, while in adulthood the past history may be unremarkable prior to initial presentation. The unique character of mitochondrial genetics means family history patterns of inheritance may be both maternal and autosomal, making genetic counseling challenging. Tissue specificity and mitochondrial heteroplasmy may result in a spectrum of phenotypes even within a single family with the same molecular defect. Mitochondrial diseases are heterogeneous and multifaceted, and can present at any age. Clinical features may range from an acute life-threatening metabolic derangement to intermittent or episodic crises with partial recovery to a more gradual progressive neurodevelopmental decline or regression. Organ involvement may be isolated but often evolves into multisystem disease. Understanding the general characteristics of pediatric and adult-onset mitochondrial disease and some typical clinical manifestations can allow family physicians to better serve their patients. General characteristics of pediatric and adult-onset disease Childhood mitochondrial disease is typica Continue reading >>

Maternally Inherited Diabetes And Deafness

Maternally Inherited Diabetes And Deafness

Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes. Some people with MIDD develop an eye disorder called macular retinal dystrophy, which is characterized by colored patches in the light-sensitive tissue that lines the back of the eye (the retina). This disorder does not usually cause vision problems in people with MIDD. Individuals with MIDD also may experience muscle cramps or weakness, particularly during exercise; heart problems; kidney disease; and constipation. Individuals with MIDD are often shorter than their peers. Continue reading >>

Diabetes Mellitus And Deafness

Diabetes Mellitus And Deafness

Diabetes mellitus and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) is a subtype of diabetes which is caused from a point mutation at position 3243 in human mitochondrial DNA, which consists of a circular genome. This affects the gene encoding tRNALeu.[1][2] Because mitochondrial DNA is contributed to the embryo by the oocyte and not by spermatozoa, this disease is inherited from maternal family members only.[1] As indicated by the name, MIDD is characterized by diabetes and sensorineural hearing loss.[1] Signs and symptoms[edit] As suggested by the name, MIDD patients are subject to sensorineural hearing loss.[1] This begins with a reduction in the perception of frequencies above approximately 5 kHz which progressively declines, over the years, to severe hearing loss at all frequencies.[1] The diabetes that accompanies the hearing loss can be similar to Type 1 diabetes or Type 2 diabetes; however, Type 1-like diabetes is the more common form of the two. MIDD has also been associated with a number of other issues including kidney dysfunction, gastrointestinal problems, and cardiomyopathy.[3] Genetics[edit] Penetrance and age of onset[edit] MIDD represents 1% of patients with diabetes. Over 85% of people that carry the mutation in mitochondrial DNA at position 3243 present symptoms of diabetes. The average age at which MIDD patients are typically diagnosed is 37 years old but has been seen to range anywhere between 11 years to 68 years old. Of these diabetic patients carrying the mitochondrial DNA mutation at position 3243, 75% experience sensorineural hearing loss.[1] In these cases, hearing loss normally appears before the onset of diabetes and is marked by a decrease in perception of high tone frequencies.[3] The associated hearing loss with diab Continue reading >>

Mitochondrial Diseases

Mitochondrial Diseases

Overview Diagnosis and Tests Management and Treatment Outlook / Prognosis Mitochondria are the energy factory of our body. Several thousand mitochondria are in nearly every cell in the body. Their job is to process oxygen and convert substances from the foods we eat into energy. Mitochondria produce 90 percent of the energy our body needs to function. Mitochondrial diseases are chronic, genetic, often inherited disorders that occur when mitochondria fail to produce enough energy for the body to function properly. (Inherited means the disorder was passed on from parents to children.) Mitochondrial diseases can be present at birth, but can also occur at any age. Mitochondrial diseases can affect almost any part of the body including the cells of the brain, nerves, muscles, kidneys, heart, liver, eyes, ears or pancreas. Mitochondrial dysfunction occurs when the mitochondria do not work as well as they should due to another disease or condition. Many conditions can lead to secondary mitochondrial dysfunction including autism , Parkinsons disease , Alzheimers disease , muscular dystrophy , Lou Gehrigs disease , diabetes , and cancer. Individuals with secondary mitochondrial dysfunction do not have primary genetic mitochondrial disease and do not need to be concerned about the ongoing development or worsening of symptoms. One in 5,000 individuals has a mitochondrial disease. Each year, about 1,000 to 4,000 children in the United States are born with a mitochondrial disease. With the number and type of symptoms and organ systems involved, mitochondrial diseases are often mistaken for other, more common, diseases. In most people, primary mitochondrial disease is a genetic condition that can be inherited (passed from parents to their children). Mitochondrial diseases can be inh Continue reading >>

Mitochondrial Diabetes

Mitochondrial Diabetes

Around 1% of all cases of diabetes are due to mutations in the mitochondrial DNA (mtDNA). The commonest mutation is the m.3243A>G, associated with the maternally inherited diabetes and deafness (MIDD) syndrome. Patients with MIDD are often misclassified as type 2 or type 1 diabetes by physicians unaware of the syndrome. The presence of diabetes, deafness and a family history of the above in maternal relatives should raise suspicion of MIDD and genetic testing should be pursued in view of the implications for personalised management and genetic counselling for patients and relatives. Diabetes is treated initially with oral hypoglycaemics, but early use of insulin is commonly needed due to insulin deficiency. Maternally inherited diabetes and deafness (MIID/; MIM no. 520000) is a rare form of diabetes, accounting for approximately 1% of all diabetes cases [1] , first described in 1992 by van den Ouweland et al in a Dutch family and by Reardon et al in a UK family [2] [3] . This quite heterogeneous syndrome results from an A to G substitution at the conserved position 3243 (m.3243A>G) of the mitochondrial DNA. The age and the mode of presentation of diabetes result in this entity being often misdiagnosed as either T1D or T2D. The presence of diabetes and sensorineural deafness in a patient with family history of similar problems in maternal relatives should raise suspicion of MIDD. However, a number of other features may co-exist (see below). The clinical characteristics of diabetes can be similar to either T1D or T2D depending on the degree of insulinopenia. The presentation is usually insidious as in T2D, however around 20% of cases present acutely, even with ketoacidosis in a small proportion. Interestingly, in the vast majority of MIDD patients there is lack of autoim Continue reading >>

Mitochondrial Disorder Medical Information

Mitochondrial Disorder Medical Information

Mitochondrial Disorder Medical Information Visit the BCMJ May 2011 issue here to read a compilation of medical articles about mitochondrial disease. A mitochondrion (singular of mitochondria) is part of every cell in the body that contains genetic material. Mitochondria are responsible for processing oxygen and converting substances from the foods we eat into energy for essential cell functions. Mitochondria produce energy in the form of adenosine triphosphate (ATP), which is then transported to the cytoplasm of a cell for use in numerous cell functions. What are mitochondrial and metabolic diseases? Mitochondrial medicine is a new and rapidly developing medical subspecialty. Many specialists are involved in researching mitochondrial diseases, including doctors specializing in metabolic diseases, cell biologists, molecular geneticists, neurologists, biochemists, pathologists, immunologists, and embryologists. Much of what we know about these diseases has been discovered since 1940. In 1962, the first patient was diagnosed with a mitochondrial disorder. In 1963, researchers discovered that mitochondria have their own DNA or "blueprint" (mtDNA), which is different than the nuclear DNA (nDNA) found in the cells' nucleus. Mitochondrial and metabolic medical conditions are now referred to as mitochondrial cytopathies. Mitochondrial cytopathies actually include more than 40 different identified diseases that have different genetic features. The common factor among these diseases is that the mitochondria are unable to completely burn food and oxygen in order to generate energy. The process of converting food and oxygen (fuel) into energy requires hundreds of chemical reactions, and each chemical reaction must run almost perfectly in order to have a continuous supply of energy Continue reading >>

Orphanet: Mitochondrial Diabetes

Orphanet: Mitochondrial Diabetes

The prevalence is unknown, but MIDD accounts for 0.2-3% of all cases of diabetes. The first manifestations may occur at any age, but the disease is usually diagnosed in early adulthood. In most cases, the onset of deafness precedes that of diabetes. The severity of the hearing loss is variable but it is sensorineural, bilateral and progressive, and is more profound at higher frequencies. In most cases, patients present pseudo-type 2 diabetes, with a normal or low body mass index. Pseudo-type 1 diabetes, sometimes with ketoacidosis, is observed in 20% of cases. Diabetic retinopathy is less common in MIDD patients than in those with classic forms of diabetes. In more than 80% of cases, patients develop specific macular pattern dystrophy lesions that are only seen in MIDD patients and are asymptomatic in most cases. Organs with high metabolic activity (muscles, myocardium, kidney, and brain) are frequently affected potentially leading to muscle pain, gastrointestinal tract symptoms, nephropathy, cardiomyopathy, and neuropsychiatric symptoms. In most cases, MIDD is caused by a point mutation in the mitochondrial gene MT-TL1, encoding the mitochondrial tRNA for leucine, and in rare cases in MT-TE and MT-TK genes, encoding the mitochondrial tRNAs for glutamic acid, and lysine, respectively. Diagnosis is based on the clinical picture and patient history. Measurements of fasting plasma glucose levels allow diagnosis of the diabetes. Ophthalmologic examination reveals the disease-specific macular pattern dystrophy. The diagnoses of standard type 2 and type 1 diabetes are excluded by the presence of the deafness, low body weight and the specific macular pattern dystrophy, and by evidence of maternal transmission. Management is symptomatic. Oral antidiabetic agentsand/or insulin Continue reading >>

Unexplained Gastrointestinal Symptoms: Think Mitochondrial Disease - Sciencedirect

Unexplained Gastrointestinal Symptoms: Think Mitochondrial Disease - Sciencedirect

Volume 46, Issue 1 , January 2014, Pages 1-8 Unexplained gastrointestinal symptoms: Think mitochondrial disease Defects in mitochondrial function are increasingly recognised as central to the pathogenesis of many diseases, both inherited and acquired. Many of these mitochondrial defects arise from abnormalities in mitochondrial DNA and can result in multisystem disease, with gastrointestinal involvement common. Moreover, mitochondrial disease may present with a range of non-specific symptoms, and thus can be easily misdiagnosed, or even considered to be non-organic. We describe the clinical, histopathological and genetic findings of six patients from three families with gastrointestinal manifestations of mitochondrial disease. In two of the patients, anorexia nervosa was considered as an initial diagnosis. These cases illustrate the challenges of both diagnosing and managing mitochondrial disease and highlight two important but poorly understood aspects, the clinical and the genetic. The pathophysiology of gastrointestinal involvement in mitochondrial disease is discussed and emerging treatments are described. Finally, we provide a checklist of investigations for the gastroenterologist when mitochondrial disease is suspected. Continue reading >>

Diabetes Update: Mitochondrial Diabetes: Another Non-insulin Resistant Adult Onset Diabetes

Diabetes Update: Mitochondrial Diabetes: Another Non-insulin Resistant Adult Onset Diabetes

Mitochondrial Diabetes: Another Non-Insulin Resistant Adult Onset Diabetes I've been reading up on mitochondria this month, in the writings of Nick Lane, Power, Sex, Suicide: Mitochondria and the Meaning of Life, and Oxygen: The Molecule That Made the World. There was a lot of interesting information in both books, but because at times Lane writes in a confused way about the relationship of diabetes and mitochondrial dysfunction, I became curious about what is actually known about mitochondrial failure and diabetes and started reading up on the subject. It turns out that there is a distinct genetic form of diabetes caused by the A3243G mutation in the mitochondrial DNA-encoded tRNA(Leu,UUR) gene. It causes an adult onset form of diabetes that can be misdiagnosed as either Type 1 or Type 2 depending on how late the onset is. Some people get it in their 20s, while others only develop it in middle age. The average age of onset is 38 years. Whatever the time of onset, 100% of those who have this gene will eventually become diabetic, with a form of diabetes characterized by failure to secrete insulin, rather than insulin resistance. Like all the genetic forms of diabetes, this is another case where the actual expression of the gene defect can range from very mild to severe. Some people who carry it won't develop diabetes until they are in their 60s, while others may get it in their teens and be misdiagnosed as Type 1 (though the person with it will not show the characteristic antibodies associated with autoimmune Type 1.) The actual percentage of mitochondria carrying the mutation in various tissues will vary from person to person diagnosed with it, and that may have something to do with the severity of the diabetes, as well as whether other damaging effects of the gene are Continue reading >>

Mitochondrial Disease

Mitochondrial Disease

*Mitochondiral myopathies facts medical author: Charles Patrick Davis, MD, PhD Mitochondrial disease includes a group of neuromuscular diseases caused by damage to intracellular structures that produce energy, the mitochondria; disease symptoms usually involve muscle contractions that are weak or spontaneous. There is no specific treatment for mitochondrial diseases (myopathies). The prognosis varies according to the disease type; in general, these diseases are progressive and can cause death. Research into treatments and other disease aspects is ongoing; there are several organizations devoted to understanding and treating these relatively rare disorders. Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondriasmall, energy-producing structures that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes . Continue reading >>

Type 1 Diabetic With Mitochondrial Disease

Type 1 Diabetic With Mitochondrial Disease

Diabetes Forum The Global Diabetes Community This site uses cookies. By continuing to use this site, you are agreeing to our use of cookies. Learn More. Get the Diabetes Forum App for your phone - available on iOS and Android . Find support, ask questions and share your experiences. Join the community Type 1 diabetic with mitochondrial disease Hey guys! So I have been diabetic now for nearly three years. Since being diagnosed they have discovered that I actually suffer from a condition called MIDD (maternally inherited diabetes and deafness) this form of diabetes is a mitochondrial form meaning that I will eventually loose some of my hearing. As well as the diabetes side of it I also suffer from muscle pains and I awaiting a muscle biopsy. I was hoping I could find people my age and possibly who might live in the newcastle area to chat with or just people in general who suffer similarly I don't have MIDD, but understand that there is a Professor in Newcastle who is an expert on this condition, you may have already been referred to him ? It's quite rare ! But a warm welcome to the forum, I know that you will find a huge amount of info here on the diabetes side alone that you will find of interest, also a great deal of support Welcome. I hope you get all the answers and support you need. ( Because I'm pretty sure someone posted about this recently , I just can't remember who and where There is another forum member who posted about this condition, @kesun , but it was a few months back. Her post is here, Thank you Catherine, I knew that I had read it somewhere ! However, " recent" could be anytime in the last decade for me Hey guys! So I have been diabetic now for nearly three years. Since being diagnosed they have discovered that I actually suffer from a condition called Continue reading >>

Mitochondrial Disease

Mitochondrial Disease

Mitochondrial disease refers to a group of disorders that affect the mitochondria, which are tiny compartments that are present in almost every cell of the body. The mitochondrias main function is to produce energy. More mitochondria are needed to make more energy, particularly in high-energy demand organs such as the heart, muscles, and brain. When the number or function of mitochondria in the cell are disrupted, less energy is produced and organ dysfunction results. Depending on which cells within the body have disrupted mitochondria, different symptoms may occur. Mitochondrial disease can cause a vast array of health concerns, including fatigue, weakness, metabolic strokes, seizures, cardiomyopathy, arrhythmias, developmental or cognitive disabilities, diabetes mellitus, impairment of hearing, vision, growth, liver, gastrointestinal, or kidney function, and more. These symptoms can present at any age from infancy up until late adulthood. Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10. Overall, approximately 1 in every 4,300 individuals in the United States has a mitochondrial disease. Given the various potential presentations that may occur, mitochondrial disease can be difficult to diagnosis and is often misdiagnosed. There are various methods to examine if an individual has mitochondrial disease. These include genetic diagnostic testing, genetic or biochemical tests in affected tissues, such as muscle or liver, and other blood or urine based biochemical markers. However, our knowledge is still growing and we do not yet know all of the genes that could potentially cause mitochondrial disease. Mitochondria are unique in that they have their own DNA called mitochondrial DNA, or mtDNA. Mutations in this mtDNA or mutations in nucle Continue reading >>

More in diabetes