Genetic Testing : A Case Study

The main function of the mitochondria is to convert fuel into a form of energy the cell can use. Specifically, the mitochondria is where pyruvate --derived from glucose-- is converted into ATP (Adenosine triphosphate) through cellular respiration. Cellular respiration involves four stages: glycolysis, the grooming phase, the citric acid cycle, and oxidative phosphorylation. The final two stages listed occur in the mitochondria.

Mitochondria are small organelles found in eukaryotic cells which respire aerobically. They are responsible for generating energy from food to ‘power the cell’. They contain their own DNA, reproducing by dividing in 2. As they closely resemble bacteria, it gave the idea that they were derived from bacteria (which were engulfed by ancestors of the eukaryotes we know today). This idea has since been confirmed from further investigations, and it is now widely accepted. (Alberts et al., 2010a)

In the United Kingdom alone, 150 new born children per year suffer from life threatening, mitochondrial diseases. These diseases vary in severity from person to person, making them difficult to diagnose, and they inflict an array of ailments such as neurological problems, muscle weakness, visual or auditory impairments, heart, liver, and kidney disease,

Mitochondria are often referred to as the powerhouses of the cells. They generate the energy that our cells need to do their jobs. For example, brain cells need a lot of energy to be able to communicate with each other and also to communicate with parts of the body that may be far away, to do this substances need to be transported along the cells, which needs lots of energy. Muscle fibres also need a lot of energy to help us to move, maintain our posture and lift objects.

Secondary Mitochondrial Disease can occur when mitochondria are damaged by oxidative stress includes diseases like Parkinson's or Alzheimer's (research still going on). The connection between other diseases and mitochondrial disease is being still being studied as it has a wide range of different effects on the body. Primary Mitochondrial Disease can be due to mutated genes that are passed on or inherited or can be sporadic. Mitochondrial disease may be inherited from the mitochondrial DNA or from nuclear DNA. It can also be a spontaneous

(8). Our preliminary data indicate that alveolar type (ATII) cells isolated from individuals with emphysema have higher nuclear DSBs than control smokers or nonsmokers. Moreover, we observed an increase in mtDNA damage in ATII cells in this disease in comparison with controls. We also found lower XRCC4-like factor (XLF) expression, which is involved in NHEJ pathway (9, 10), in ATII cells in emphysema in comparison with controls. Furthermore, we detected that high oxidative stress induced by exposure to cigarette smoke induces XLF oxidation and localization in mitochondria. DJ-1 is a cytoprotective protein localized in mitochondria. However, we observed that it interacts with XLF in ATII cells in emphysema, which indicates the critical role of XLF/DJ-1 complex in mitochondrial function. In addition, our results suggest that the number of mitochondria is decreased in these cells isolated from emphysema patients in comparison with control smokers and nonsmokers. Our hypothesis is that high levels of ROS in emphysema induce XLF oxidation and mtDNA damage leading to mitophagy and cell death (Fig. 1). Elucidating the molecular mechanisms contributing to mitophagy in primary ATII cells will advance our understanding of the contribution of mitochondria physiology to emphysema development. ATII cells will be isolated from excess tissue obtained from lung transplants of patients with emphysema, Veterans with respiratory problems and from control organ donors

Function: Mitochondria contain enzymes which are involved in respiration. It is where ATP is produced consequently from the result of aerobic respiration; producing energy. Mitochondria are also used for metabolism which involves a lot of energy. Also it experiences chemical reactions and releases many hormones such as glycogen and insulin around the body which also requires a lot of energy. In addition to this, mitochondria are also involved in protein synthesis.

The hub of energy metabolism, the mitochondrion, is found in virtually all eukaryotic cells, with the exception being erythrocytes. The mitochondrion generates cellular energy in the form of adenosine triphosphate (ATP), mostly by means of the oxidative phosphorylation (OXPHOS) system that is located in the inner mitochondrial membrane. The respiratory chain (CI-CIV) and ATP synthase (CV) is collectively known as the OXPHOS system, encoded by both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). The number of mitochondria per cell, ranging from hundreds to thousands, is controlled by the energy requirements of specific tissues with the greatest abundance of mitochondria found in metabolic active tissue (Pieczenik and Neustadt, 2007). Mitochondrial disease is caused when there is a defect in any of the numerous mitochondrial pathways, due to spontaneous or inherited mutations. Respiratory chain deficiencies (RCDs) are the largest subgroup of mitochondrial disease and occur when one of the four respiratory chain complexes become impaired. RCDs are considered to be one of the most common

Fig. 5 A. Mean number of mitochondria/µm2 ± SEM within 80 µm of the soma for wildtype mitochondria (WT - red) and Rett syndrome mitochondria (RTT – blue), both after 10 days in vitro. B. Mean number of mitochondria/µm2 ± SEM within 16-32, 32-48, 48-64 and 64-80 µm of the soma for wildtype

In addition to energy production, mitochondria play a role in several other cellular activities such as regulating apoptosis which is the programmed self-destruction process of cells and producing substances such as heme which is a component of hemoglobin, and cholesterol (2).

Mitochondria (mt) provide critical function in (a) maintenance of cellular energy supplies, i.e., thermoregulation and synthesis of essential molecules (such as phospholipids and heme); (b) apoptosis or programmed cell death; and (c) mediating multiple cellular signaling pathways (Ryan and Hoogenraad 2007).

Unfortunately, genetic testing tends towards being inaccurate with specific empirical data missing, and the common tool for its analysis appears to be nothing more than fictionalized scenarios, accompanied by varying interpretations and applications of test results. (B-232) The more common ancestry tests rely on short stretches of DNA in mitochondria, the cell-powering organelles. These mitochondria are inherited through the mother, or on the Y chromosome which is passed down from father to son. Mitochondria and Y chromosomes developed specific changes to them as people migrated around and across the world, and tied them to different populations, but charting an unbroken line along ‘uniparental markers’ (the paternal or maternal line) is

This study is about multiple mitochondrial alterations in myopathy. The case study was a 50 year old African-American woman that had complaints of progressive weakness in her legs, so severe she need the help of a walker. Three years prior to this she reported her left foot slapping on the ground, both legs were week however the left was weaker. Other than this, no other symptoms were present, such as dysphagia, diplopia, dysarthria, or weakness in her arms. According to following test arm strength was 4/5, with more prominent weakness distally. Testing in leg strength revealed hip flexion, knee extension, and angel dorsiflexion strength was 2/5. Hip abduction, knee flexion, and ankle plantar flexion strength was 5/5. Her first dorsal inerossei

What are mitochondria? Mitochondria are the power plants for your cells. They convert the nutrients that you eat into energy. Logically then, the more mitochondria you have, the more fat you burn.

Mitochondrion is an importance structure that lies in the cytoplasm area. Mitochondrion is the plural word for mitochondria, which is the key organelle that converts energy from one form to another. Mitochondria changes the chemical energy stored in food into compounds that are more convenient for the cell to use. The mitochondrion contains two special membranes. The outer membrane surrounds the organelle, and the inner membrane has many folds that increase the surface area of the mitochondrion.