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T HE GENETICS OF MITOCHONDRIAL DISEASE By: Dr Natasha Gerbis
Mitochondria Mitochondria play an essential role in cellular metabolism Convert food into energy The “batteries” of the cell
Mitochondria Synthesize energy molecules called ATP via oxidative phosphorylation
Mitochondria Present in every cell in the body, except for mature red blood cells Some cells have only a few mitochondria Other cells may contain up to 2000 mitochondria
Distribution of Mitochondria Tissues that require lots of energy have lots of mitochondria Muscles Heart Eyes Ears GIT
Mitochondrial genetics Over 1500 genes make up the genetic code responsible for producing one mitochondrion 37 genes are coded for by mitochondrial DNA The rest are encoded by the nuclear genome
Mitochondrial disease inheritance
Mitochondrial inheritance Caused by mitochondrial DNA mutations Mitochondrial DNA is inherited from the mother only
Mitochondrial inheritance http://www.dmc.org/information-for-mitochondrial-medicine-center-patients.html
Mendelian Inheritance Caused by mutations in the nuclear genome Nuclear DNA is inherited from both parents
Autosomal dominant http://www.natera.com/single-gene-testing
Autosomal recessive http://www.npr.org/
Sporadic disease Affected
Mitochondrial Oxidative Phosphorilation and Genetics Abigail Hardy.
Mitochondria The organelle that releases energy in the cell. (The powerhouse of the cell) Only found in ANIMAL cells. Mitochondria produce.
CELL BIOLOGY Mitochondria The organelle that releases energy in the cell. (The powerhouse of the cell) Only found in ANIMAL cells. Mitochondria.
Patterns of single gene inheritance Mahmoud A. Alfaqih BDS PhD Jordan University of Science and Technology School of Medicine Department of Biochemistry.
Allele. Alternate form of a gene gene variant autosome.
Mitochondria 90% of ATP generated there 10 to 1000s per cell (highest in brain, skeletal muscle, heart, kidney, liver) About 50 known mutations of human.
Mitochondria,Role &Function GR.Zamani, Pediatric Neurologist Children’s Medical Center,Tums,Dec.2013.
What is the Mitochondria? Mitochondria is an organelle that works as a battery for the cell. Mitochondria takes in nutrients, breaks them down, and creates.
Chromosomes Genes Where do you find DNA? All mature cells contain DNA except the red blood cells DNA is found in the nucleus Small amounts of DNA are.
Punnett Square Demonstrates how alleles can be combined when the F1 plants are self-fertilized to produce an F2 generation. Shows that 1/4 of the F2 plants.
Your blood type is established before you are BORN, by specific GENES inherited from your parents. These two genes - one gene from your MOTHER and one.
FOR FRESHERS Mendelian Inheritance. Mendelian inheritance There are two alleles of a gene on different sister chromosomes. Dominant alleles trump recessive.
Why would it be beneficial to know about the human genetic code? Exam next Friday.
Introducing genes Genetics is the study of inherited traits and their variations. Genetics is not genealogy! Genealogy is the study of family relationships.
Genetic Disorders Caused by ___?________ in the DNA mutations.
Cystic Fibrosis Caused by a recessive allele on chromosome 7 It is inherited in a autosomal recessive pattern. People with cystic fibrosis lack one amino.
Medical Genetics 07 线粒体疾病的遗传 Inheritance of Mitochondrail Diseases.
Genetics. Cells-Nucleus-Chromosomes- DNA- Genes They are all found in a cell. They are all located in the body.
MITOCHONDRIAL GENETICS. Origin of Mitochondria Endosymbiont Theory Similar size to certain free-living bacteria Similar chromosome & cytoplasm to bacteria.
Genetic Disorders and Genetic Testing © 2010 Project Lead The Way, Inc.Medical Interventions.
Genetic Disorders. Recessive Alleles Most of the time a genetic disorder will be recessive. The cause of many diseases were discovered by comparing the.
Chapter 11 - DNa introduction. Forensics Uses DNA evidence has been used to investigate crimes, establish paternity, and identify victims of war and large-
Mitochondria Somatic tissue Bone Bone production.
Oxidative phosphorylation NADH transport Oxidative phosphorylation.
Cellular Metabolism Chapter 4. Introduction Metabolism is many chemical reactionss Metabolism breaks down nutrients and releases energy= catabolism Metabolism.
Sickle Cell Anemia Danny Gardner and Merline Maxi 1/28/10 Period 9/10.
Figure 2.17b Mendel’s Peas Our Origins, 2nd Edition Copyright © 2011 W.W. Norton & Company Mendel and Darwin’s missing evidence.
CHISOM AMAEFUNA ADELINE LAURENTE 1/29/10 PERIOD 2 Sickle Cell Anemia.
Cells Part 2. Parts of the Eukaryotic Cell (organelles) Nucleus Cell membrane Ribosome Endoplasmic reticulum Mitochondria Cytoskeleton Vesicle.
Cells are the building blocks of all living organisms Cells reproduce to replace old, damaged cells in an organism, to allow growth or growth of a new.
2 Genetic Information Gene – basic unit of genetic information. Genes determine the inherited characters. Genome – the collection of genetic information.
Non-Mendelian Genetics Chapter Five. 2. Independent Assortment Mendel’s Laws Two genes will assort independently and randomly from each other 1. Principle.
Genetics Learning objectives To describe the transmission of genetic information. To define mitosis and meiosis. To differentiate mitosis and meiosis.
AYESHA M. KHAN SPRING Cytoplasmic Inheritance While transmission genetics concentrates mostly on the inheritance of nuclear chromosomes, there is.
PHOTOSYNTHESIS AND CELLULAR RESPIRATION. Energy Flow Light from the sun is our ultimate source of energy Autotrophs take energy from the sun and turn.
BY. 1. WHAT IS MITOCHONDRIA? 1. WHAT IS MITOCHONDRIA? 2.STRUCTURE OF MITOCHONDRION 2.STRUCTURE OF MITOCHONDRION 3.THE OUTER MEMBRANE 3.THE OUTER MEMBRANE.
Sickle Cell Andrew Novoa and Thea De Guzman 2/1/10 Per. 3.
List at least 3 genetic conditions you know of. Why do you think they are genetic conditions?
Inborn Errors of Metabolism BCH 451 Dr. Amina ElGezeery.
X-linked dominant inheritance: the basics a tutorial to show how the genes segregate to give the typical pedigree pattern Professor P Farndon, Clinical.
Starter Read through your work, check you understand the topics covered so far. 1.How can inherited factors affect your health? Inheritance, Exercise and.
Genes are: Nucleotides transferred from parent to offspring that play a role in determining genotypic and phonotypical outcomes Heredity is: Acquiring.
P691 Only those with specific transporters can pass All pathways related to fuel oxidation except glycolysis N side.
Medical Genetics Textbooks: Emerys Elements of Medical genetics Strachan & Read Human Molecular Genetics (for the genome project material)
Review. What part of the cell allows some materials to enter and other materials to exit? What process do most cells use to get energy? Red blood.
Cells and Cell Structures. Cells All living things are made of cells Cells are the basic structural and functional unit of living things New cells are.
Nevada has a very high biodiversity compared to other states. Which reason best explains why this is the case? A. It is a large state in terms of area.
Genetic Diseases. Analytical methods for the identification of genetic disease play an important part in the pediatric clinical chemistry laboratory.
Genetics Chapter Twelve: The Code of Life 12.1 The Role of DNA in Heredity 12.2 DNA and Technology.
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