Mitochondrial diseases

[Virtual Presenter] Good morning everyone. Today I will be talking to you about mitochondrial diseases. We will look at the associated inheritance patterns investigate methods and treatments available. I hope this will be a useful and informative presentation as we look into this important topic..

[Audio] My name is Indhuja M Let us discuss the various aspects of mitochondrial diseases. We will begin by introducing what they are and their pattern of inheritance. We will then briefly touch on different diseases the investigation and the available treatments..

[Audio] Mitochondria is a crucial organelle in a cell essential for the generation of energy in the form of A-T-P via the process of oxidative phosphorylation. It has its own genome in the form of mDNA carrying 37 genes encoding 22 transfer RNAs 2 ribosomal R-N-A-s and 13 polypeptides components of the electron transport chain..

[Audio] Mitochondrial diseases often involve a genetic component which can influence the way they are inherited. To determine those in danger it is crucial to recognize the inheritance pattern. The mitochondrial D-N-A stands out from nuclear D-N-A with two differences: only the maternal lineage provides it and it contains multiple copies in a cell. This combination of qualities can lead to unexpected outcomes in the transfer of mitochondria-related characteristics and in pinpointing those at risk..

HETEROPLASMY. Oocyte maturation and mtDNA amplification O Mutant mitochondrion O Normal mitochondrion o Nucleus Primordial germ cell containing mutant mtDNA O o Primary oocytes Fertilization High level of mutation (affected offspring) Intermediate level of mutation (mildly affected offspring) Low level of mutation (unaffected offspring) Mature oocytes.

[Audio] Mitochondrial diseases are hereditary conditions that are passed from mother to child. As seen in Figure 468-2 women with the trait pass it on to their children while affected men do not. This is due to the fact that the mitochondria which produce energy in cells are only inherited from the mother. To develop effective treatments or prevention strategies for these diseases it is important to understand the patterns of inheritance..

[Audio] Mitochondrial diseases affect not only individuals but entire families as some can be genetic and passed down from one generation to the next. It's estimated that about 1 in 4000 to 5000 people have some form of mitochondrial disease. Symptoms can range from neurological issues muscle weakness vision problems hearing loss and even gastrointestinal heart or liver failure. Sadly there is no cure for mitochondrial diseases though treatments can help manage symptoms and slow their progression. Research is ongoing to find more effective treatments so it's important to spread awareness about mitochondrial diseases and support research efforts..

[Audio] Mitochondrial diseases can affect various parts of the body from the heart and eyes to the skeletal muscle brain liver kidney pancreas blood and inner ear as well as the colon. These diseases can manifest themselves in many ways such as conduction disorder Wolff-Parkinson-White syndrome cardiomyopathy optic neuropathy ophthalmoplegia retinopathy weakness fatigue myopathy neuropathy seizures myoclonus ataxia stroke dementia migraine hepatopathy impaired oxidative phosphorylation Fanconi's syndrome glomerulopathy and diabetes mellitus among others..

[Audio] Mitochondrial diseases are a group of rare genetic disorders that involve an impaired energy production within cells. This table shows some of the most frequent mitochondrial diseases their associated phenotype age of onset and the mtDNA mutations that can cause them. These diseases can produce severe physical and developmental handicaps and may affect multiple organ systems. Nevertheless with accurate diagnosis and adequate medical attention people affected by mitochondrial diseases can lead satisfactory lives..

[Audio] Mitochondrial diseases are a broad range of illnesses caused by defects in the mitochondria the organelle responsible for generating energy for the cell. Kearns-Sayre Syndrome is one such example usually occurring with degeneration of retinal pigments external ophthalmoplegia ataxia and cardiac conduction defects in more than 80% of cases. Muscle biopsy results can show ragged red fibers with an irregular contour and structurally abnormal mitochondria that stain red indicative of this condition. Early diagnosis is beneficial as it can improve the outlook for those affected..

[Audio] Mutations in the mitochondrial D-N-A can cause a group of disorders referred to as mitochondrial diseases. These diseases can affect multiple organ systems including the brain and muscles and the associated symptoms can range from mild to life-threatening. Diagnosing mitochondrial diseases can be challenging as they can produce a wide range of signs and symptoms. Treatment is generally directed at managing the symptoms and signs of the disease in order to enhance quality of life..

[Audio] Mutations of mitochondrial D-N-A are responsible for mitochondrial diseases a group of disorders that affect the energy-producing units of the cell. One such disorder melas syndrome is maternally inherited and affects multiple organ systems. People with melas syndrome may experience stroke-like episodes hemiparesis hemianopia and cortical blindness. Recognizing these symptoms is essential for diagnosis and treatment of this disorder..

[Audio] Mutation of genes in mitochondria can lead to mitochondrial diseases a debilitating group of disorders that affect the body's energy production process. Symptoms of mitochondrial diseases can be varied and disabling ranging from stroke-like episodes before age 40 to encephalopathy to seizures dementia and lactic acidosis. In addition a skeletal muscle biopsy can be used to detect the presence of ragged red fibers which is a tell-tale sign of mitochondrial diseases. When left untreated mitochondrial diseases can have a severe and lasting effect on the health of patients. Proper diagnosis and early recognition are paramount for successful management of these conditions. Therefore clinicians should be on the alert for various symptoms such as stroke-like episodes before the age of forty encephalopathy seizures dementia lactic acidosis and ragged red fibers in skeletal muscle biopsy which may serve as indicators for mitochondrial diseases..

[Audio] Mitochondrial diseases are a group of disorders caused by malfunctioning of mitochondria the organelles responsible for producing energy within the cell. The clinical presentation of these diseases varies with symptoms ranging from neurologic cardiac endocrine to metabolic disorders. Being present in almost all human cells mitochondrial diseases can have far reaching effects leading to seizures strokes cerebellar ataxias and even sensory problems. Diagnosis is tricky and treatment is customised to the individual as the disease can manifest in various forms and intensity..

[Audio] Mitochondrial Diseases are medical conditions caused by faulty mitochondria the organelles that generate energy in cells. An example of a well-known mitochondrial disease is Myoclonic Epilepsy with Ragged Red Fibers Syndrome or merrf. It is usually identified by myoclonus which is the leading symptom in addition to generalized epilepsy ataxia and myopathy. The exact mechanism of the disease is still not clear but numerous studies are being conducted to help comprehend it and its treatments..

[Audio] Mutations in mitochondrial D-N-A can cause a range of illnesses from epilepsy to muscle weakness. These conditions generally begin during childhood after a normal early development. Our research has found that around 80% of people suffering from Myoclonic Epilepsy and Ragged-Red Fiber Disease (M-E-R-R-F) have a mutation at nucleotide 8344 in the mitochondrial MT-TK gene which codes for the transfer RNA Lysine. This emphasizes the importance of mitochondrial research to identify the causes and treatments of these hard-to-deal-with diseases..

[Audio] Mutations in genetic material can cause mitochondrial diseases resulting in impaired mitochondrial functions. A diagnostic hallmark of these diseases is the presence of modified gomori trichrome stained ragged red fibres in muscle tissue. This histochemical technique can identify abnormal mitochondria in the muscle fibres allowing for effective diagnosis of the disease..

[Audio] Mitochondrial diseases are a group of rare genetic disorders that affect multiple organs and tissues in the body. midd or Maternally Inherited Deafness and Diabetes is one of these diseases. Characterized by a defect in the insulin secretion process that leads to insulin dependence the mean age of onset of diabetes and hearing loss is between 30 and 40 years. The expression of the disease varies from one person to another making diagnosis and treatment difficult. But with the right medical care people with mitochondrial diseases can get the help they need..

[Audio] Pearson Syndrome is a rare yet serious congenital multi-system disorder which affects the red blood cells the pancreas and other organs. Symptoms include severe anemia ring sideroblasts in the bone marrow neutropenia thrombocytopenia and exocrine pancreatic insufficiency and can greatly impair quality of life..

[Audio] Mitochondrial diseases are a group of rare genetic disorders that can lead to serious physical and neurological issues. They are caused by damage to the mitochondrial D-N-A present in mitochondria of cells. Generally these damages are a result of deletions of D-N-A that can range anywhere between two and ten kilobases. Deletions of this type are more common in blood cells than other tissues. The majority of these illnesses are fatal in the early stages and those who are able to survive beyond infancy usually display the symptoms of Kearns-Sayre Syndrome..

[Audio] Mitochondrial diseases can cause a broad range of symptoms from seizures cardiomyopathy and ataxia to vision and hearing deficits learning disabilities and even death. Leigh Syndrome a type of subacute necrotizing encephalomyelopathy is one of the serious mitochondrial diseases that typically appears in infancy or early childhood. Those diagnosed with Leigh Syndrome generally have a poor prognosis as it causes a variety of psychological neurological and muscular abnormalities. These symptoms are linked to mutations in either nuclear or mitochondrial D-N-A that disrupt the pyruvate dehydrogenase complex and the respiratory chain. To date 85 genes have been identified to have pathogenic mutations associated with Leigh Syndrome..

[Audio] Mitochondrial diseases are caused by abnormalities in the mitochondrial D-N-A or its taxonomic expression. Symptoms can vary significantly and affect multiple body organs and systems. These conditions are progressive and irreversible leading to diminished functioning and quality of life. Treatment options are scarce and focus mainly on relieving symptoms. Therefore early diagnosis is essential to help inform choices for symptom management and therapy..

[Audio] MNGIE stands for Mitochondrial Neuro Gastro Intestinal Encephalopathy a multisystem mitochondrial disorder that affects a wide range of systems in the body. It is characterized by gastrointestinal dysmotility cachexia ptosis myopathy and ophthalmoplegia as well as an asymptomatic leukoencephalopathy. Unfortunately there is no cure for MNGIE and treatments focus on managing the symptoms and may include dietary adjustments lifestyle changes and medications. Hopefully with ongoing research more effective treatments and ultimately a cure for this debilitating condition can be found." M-N-G-I-E is a complex and debilitating disorder that affects multiple systems of the body. Symptoms can include gastrointestinal dysmotility cachexia ptosis myopathy and ophthalmoplegia as well as an asymptomatic leukoencephalopathy. Currently there is no cure for MNGIE however treatments are available to manage the symptoms. These include dietary adjustments lifestyle changes and medications. With ongoing research we can look for more effective treatments and potentially a cure for this debilitating condition..

[Audio] Mitochondrial diseases are a group of genetically complex and debilitating disorders with a wide range of clinical presentations that can affect all organs. Recent medical research has shown that 73% of these diseases occur in patients aged twenty to sixty. Prognosis is usually poor with most cases caused by mutations in the TYmP gene otherwise referred to as ECGF1 which encodes thymidine phosphorylase and can lead to secondary depletion or multiple deletions of mitochondrial DNA. Even though this condition is a great challenge for clinicians and patients alike medical progress is being made and some promising treatments are currently being developed..

[Audio] Mutations in mitochondrial D-N-A can cause mitochondrial diseases a type of genetic disorder. To investigate this condition it is important to examine a person's family history conduct a clinical evaluation and run laboratory tests such as blood lactate and pyruvate levels and cerebrospinal fluid lactate and pyruvate levels. Also muscle biopsy is vital for identifying a hallmark of mitochondrial dysfunction Ragged Red Fiber. Other tests that may be conducted are electroencephalogram (E-E-G--) brain magnetic resonance imaging (M-R-I--) and spectroscopy. If the clinical features family history muscle morphology and biochemical data suggest a possible mitochondrial D-N-A mutation then molecular genetic studies such as Southern blot analysis are done..

[Audio] Mitochondrial diseases are serious genetic disorders with a wide range of symptoms from physical weakness to seizures. In terms of treatment there are two main approaches. The first is the removal of noxious metabolites such as lactic acid. The second is to supplement respiratory chain components such as Coenzyme Q-1-0 to increase mitochondrial activity. Additionally symptomatic management is also possible with the use of antiepileptic drugs to control seizures diazepam and botulinum toxin injections for dystonia baclofen and botulinum toxin injections for spasticity and nutritional supplementation for deficiencies..

[Audio] Mitochondrial diseases are genetic conditions which disrupt the body's energy production. Mitochondrial replacement therapy also referred to as cytoplasmic mitochondrial transfer is a viable form of treatment for these conditions. This procedure involves supplementing an oocyte or egg cell with healthy mitochondria extracted from a donor. Research has demonstrated that incorporating this supplement into the egg cell can improve energy production and reduce the severity of mitochondrial diseases..

[Audio] Mitochondrial diseases present a serious medical challenge due to the complexity of their aetiology symptoms and treatments. To gain an improved understanding of the disease pathway a multi-pronged approach incorporating molecular genetics neuropathology and histopathology is essential. This will enable the development of more effective interventions the ultimate goal being to improve the lives of those affected..

[Audio] Mitochondrial diseases are medical conditions that arise when the mitochondria of cells fail to produce enough energy for the body to function. Inherited or acquired the symptoms can vary from physical and cognitive disabilities to life-threatening organ failure. Robbins Nelson and Harrison Internal Medicine is an essential reference for physicians and researchers studying mitochondrial diseases providing a comprehensive overview of diagnosis treatments and management strategies. With the most recent advancements in the field this book is an invaluable source of knowledge when it comes to understanding and managing mitochondrial diseases..

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