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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
Mendelian Inheritance Caused by mutations in the nuclear genome Nuclear DNA is inherited from both parents
Sporadic disease Affected
Genetics. Cells-Nucleus-Chromosomes- DNA- Genes They are all found in a cell. They are all located in the body.
Genetic Linkage and Recombination Mendel was lucky - the genes he chose all segregated independently This is not true of all genes - many genes are linked.
Genetics: Vocabulary Nucleus DNA Chromosome Allele Gene Traits Dominant Recessive Genotype Phenotype Homozygous Heterozygous.
What is BIOLOGY? E? How do you compare and contrast living organisms? Biology - the study of life. Types of life around us. Interactions of life.
Lecture 38 Prof Duncan Shaw. Chromosomes and karyotypes Chromosomes are easily prepared from blood (and other) cells, and examined by microscope - a karyotype.
The next generation Chapters 9, 10, 17 in the course textbook, especially pages , ,
Lecture: 3 Molecular Aspects of Lymphocyte Transformation and Neoplasia.
Questions for lab 1.Halobacterium is an extremophile. In which conditions is it able to grow? In which conditions does it grow best? 2.In what ways do.
Pedigrees Who do we inherit our traits from? DO YOU LOOK LIKE YOUR AUNT OR UNCLE? DO YOU AND YOUR COUSIN SHARE TRAITS?
Genetic Inheritance & Variation No 2 organisms in a species are the same (except clones or monozygotic twins) Genetic variation is essential for evolution.
Rollercoaster of Genes by Dr. Annette M. Parrott Sung to the tune Rollercoaster of Love.
Karyotype is a picture of chromosomes. 2 out of the 46 chromosomes are sex chromosomes The rest of the 44 chromosomes are called autosomes. Females have.
4.1 Living Things Inherit Traits in Patterns We know the offspring produced by sexual reproduction have genetic material from two parents Offspring get.
Medical Genetics Textbooks: Emerys Elements of Medical genetics Strachan & Read Human Molecular Genetics (for the genome project material)
How will you know what your experimental data means? Student’s Lab Notebook.
IB Biology Definitions 2009 – 2013/ Define diffusion. Define diffusion.
Genetics. Inheritable and Non-inheritable characteristics some characteristics are passed on from parents to children – these are called inheritable…
DNA Biochemical Processes and Forensic Applications. 1.
Characteristics of Life EQ: How can you tell if something is alive?
Higher Biology Genetic Control of Growth. 2 By the end of this lesson you should be able to: Describe the Jacob-Monod hypothesis of gene action in bacteria.
DNA. Early Studies As early as 1900, scientists knew that chromosomes were located in the nucleus of a cell. They also knew that chromosomes carried hereditary.
MORE PATTERNS THAN MENDEL THOUGHT Chapter 11.4 AP Biology Fall 2010.
Lesson 59 Gene Combo. Allele Dominant model Probability Random Key Vocabulary Recessive Gene DNA Mutation Fertilization Inherit.
Inheritance Inheritance: the way genes are passed down. If a father doesn’t have a leg does that mean his children will be born with out a leg????
X LINKED INHERITANCE. X Linked (XL) disorders are encoded on the X chromosome. Males inherit their X chromosome from their mother, and Y chromosome from.
Cell the smallest part of a living thing that can be seen only with a microscope.
Anatomy Unit 4: Cell Theory & Cellular Structures.
Genetic Variation Chapter 10 and 11 in the course textbook especially pages , ,
Power Point Presentation By Charmaine Atkinson Your body is made up of millions of cells. Mammals and plants are multicellular which means they have.
1 Unit B Understanding Animal Body Systems Lesson 8 Understanding Animal Genetics.
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