It's All About the Mitochondria: “Monogenic Mitochondrial Disorders” → NEJM, March 2012 George Ngo, PharmD Candidate April 6, 2012 University of Georgia.

Slides:

Advertisements

Similar presentations

APO E Genetic Screening for Alzheimers and Metabolic Individuality.

Advertisements

AGEING CAN BE DEFINED AS THE PROGRESSIVE LOSS OF FUNCTION ACCOMPANIED BY DECREASING FERTILITY AND INCREASING MORTALITY.

Gerald Shadel, Departments of Pathology and Genetics

Leber’s Hereditary – inherited from mitochondrial DNA Optic – affects the eye Neuropathy – disease/abnormality of nervous system.

P691 Only those with specific transporters can pass All pathways related to fuel oxidation except glycolysis N side.

Mitochondrial dysfunction Monogenic mitochondrial disorders Pathologic conditions such as: – Alzheimer’s disease – Parkinson’s disease – Huntington’s.

How Do Genes Affect Our Health?. Genetics Unit Questions What is a gene? What is a gene? How do genes mutate? How do genes mutate? What possible traits.

Cell Injury and Cell Death

Personalized Medicine Presentation by: Alex Wiki by: John and Lydia.

Oxidative phosphorylation NADH transport Oxidative phosphorylation.

What is a mutation? A mutation is a permanent change in the sequence of DNA.

Metabolic diseases of the liver Central role in metabolism Causes and mechanisms of dysfunction Clinical patterns of metabolic disease Clinical approach.

List at least 3 genetic conditions you know of. Why do you think they are genetic conditions?

Homeostasis HBS3A. Organisms need nutrients Nutrients provide Energy for cellular and body activity eg movement, growth, active transport, etc Matter.

Isotonix Coenzyme Q10 Prepared by Newman Doo Introduction w The purpose of this slide show is to reveal the wonder of Coenzyme Q10.

Cellular Degeneration and Ageing Susan Rutherford and Sarah Christie.

Cell Injury and Cell Death

Changes in DNA can produce variation

Biotechnology Chapter 6.

Wellness and Illness. Cell Pathology Cell Pathology –understanding dysfunction of the body’s heirarchy dysfunction –studied at the microscope level 1)

Introduction to Medical Genetics

Introduction, Review of Biomolecules Lecture 1, Medical Biochemistry.

Exploring Technology. Solving Real-World Problems Many issues in our world are related to biology Biologists are working to try to solve these problems.

By Cynthia Tranchemontagne Biochemistry 658; Spring, 2012.

Reactive Oxygen Species April Luna, Mandy Luna, & Tara Monroe.

Nutrition and Metabolism Negative Feedback System Pancreas: Hormones in Balance Insulin & Glucagon Hormones that affect the level of sugar in the blood.

The Science Of Aging - Life span in Today 76 (about 60% increase) At this rate life expectancy should be 121 by Future ? Better Nutrition.

The Respiratory Chain & Oxidative Phosphorylation.

The genetic bases BY Casey Jaroche

+ Factors that Affect Enzyme Activity SBI4U Enzymes.

1 Biochemistry & medicine introduction. 2 1 、 definition  Science concerned with chemical basis of life.

What is Biotechnology? “a collection of technologies that use living cells and/or biological molecules to solve problems and make useful products”

ATP _ Universal Carrier of Free Energy _ Chemical _ Ionic Provides Energy for: _ Mechanical Work.

Michael Cummings David Reisman University of South Carolina Gene Regulation Part 2 Chapter 9.

SARA DEMPSEY DOCTOR OF PHARMACY CANDIDATE LECOM SCHOOL OF PHARMACY Testosterone and Diabetes Part 2 of 3.

Antioxidants in foods By: Adiba Hansat.  There is a hint in the name antioxidant.  In a nutshell an antioxidant is a molecule that prevents the oxidation.

Aging and Reactive oxygen Species. Aging: What is it?  Aging, has been termed generally as a progressive decline in the ability of a physiological process.

What Causes Symptoms of Aging?. Genetics? Defective mitochondria produce free radicals which cause other proteins to be inactive Caloric restriction seems.

By: AHMAD SALLEHUDDIN BIN MUKHTARUDDIN D11A001 & ALVIN LEE JIN WEN D11A003.

Chapter 1 What is Biochemistry and How Does it Relate to Other Areas

1- Introduction of Pathology

Overview of the Systems of the Body Circulatory system: blood circulations with heart and blood vessels Circulatory system: blood circulations with heart.

Mitochondrial function is essential for life. Increasing attention is paid to mitochondrial dysfunction as this is coupled to many metabolic and age-related.

COOPERATION MAKES IT HAPPEN Homeostasis. What is homeostasis? The ability of all living things – plants, animals, even bacteria – to maintain stable internal.

 Definition ◦ It is combination of two Latin words ◦ Pathos meaning disease ◦ Logos meaning study Pathology is a branch of medicine that deals with the.

CELL INJURY Dr. Shoaib Raza. CELL INJURY  When the adaptive capabilities of the cell are exceeded, the cell is said to be injured  Abnormal homeostasis.

Judith E. Brown Prof. Albia Dugger Miami-Dade College Alcohol: The Positives and Negatives Unit 14.

Advances in Mitochondrial Disease

The Role of Insulin- Like Growth Factor-1 in Schizophrenia By Karen Kiernan.

Cell Aging. Aging is generally characterized by the declining ability to respond to stress, increasing homeostatic imbalance and increased risk of aging-associated.

Under the supervision of miklós jászberényi

Ornithine transcarbamylase deficiency: the story of Jesse Gelsinger.

Amyotrophic Lateral Sclerosis

Cancer 101: A Cancer Education and Training Program for [Target Population] Date Location Presented by: Presenter 1 Presenter 2.

A genetic disorder is an illness caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital). Most.

INTRODUCTION TO PATHOLOGY The study of -structural -biochemical & -functional changes in cells, tissues and organs that underlie the disease. By using.

Oxidative stress, cause of aging and disease! April 21/2016 ATCO.

Lecture # 20 CELL INJURY & RESPONSE-3 Dr. Iram Sohail Assistant Professor Pathology.

WINDSOR SOM CELL BIOLOGY

Notes: Nature Vs. nurture

mitochondrial myopathies

Mechanism of Cell Injury

برهم کنش مواد مغذی و ژن در دفاع سلولی بدن

The aging oocyte—can mitochondrial function be improved?

Topic links activity Cells and microscopy Water Module 2, 2.1.2

Centrosomes and Mitochondrias

What is Biotechnology? “a collection of technologies that use living cells and/or biological molecules to solve problems and make useful products”

Scientific Background

LHON/LHON plus Andrea Gropman, M.D., FAAP, FACMG, FANA

Presentation transcript:

It's All About the Mitochondria: “Monogenic Mitochondrial Disorders” → NEJM, March 2012 George Ngo, PharmD Candidate April 6, 2012 University of Georgia College of Pharmacy Class of 2012

Mitochondria are Key Players in... Generation of Ion homeostasis Innate immune responses Production of reactive oxygen species (ROS) Programmed cell death (apoptosis) Adaptive thermogenesis ATP

Mitochondrial Structure

When Mitochondria Go Bad... Alzheimer's disease Parkinson's disease Cancer Cardiac disease Diabetes Epilepsy Huntington's disease Obesity

When Mitochondria Go Bad...

Why Should We Care? Progressive decline in the expression of mitochondrial genes is a central feature of normal human aging It is unclear whether changes the mitochondrial genetic expression has positive or negative effects on life span The aging of the population in developed societies and prevalence of previously mentioned diseases

RX Spotlight Amiodarone Aspirin Metformin Haloperidol Statins Valproic acid Zidovudine Antibiotics (ex. chloramphenicol) Chemotherapeutic agents (ex. doxorubicin) Inhaled anesthetics (ex. halothane) Environmental toxins

“Mitochondrial Medicine” Certain pts with mitochondrial disorders may be at higher risk of developing adverse reactions / side effects than healthy pts Mitochondrial dysfunction can be one MOA of new drugs New drugs are being studied in terms of: time and concentration at the cellular / mitochondrial level structure-activity relationships properties of ADME

Pharmaceutical Intervention There are four strategies for intervening in mitochondrial dysfunction  Genetic therapy  Small molecules to target specific cellular sites  Metabolic manipulation  Diet and exercise

What's in the Pipeline? Idebenone (CoQ10 variant) → Friedreich's ataxia*, Leber's hereditary optic neuropathy Ketogenic diet → epileptic seizures in children with electron transport chain disorders Nutritional modulation affected mitochondrial fxn Cyclosporin A, a permeability transition- pore desensitizer → Mutations in mitochondrial permeability pore protein, Ullrich's congenital muscular dystrophy *approved for use

Pharmaceutical Intervention

More Mitochondria Involved... Cyclosporin A → decreased size of myocardial infarcts during cardiac reperfusion Nutritional therapy → diabetes Pioglitazone → diabetes Human growth hormone → obesity Vitamin E → mitochondrial trifunctional protein deficiency

References Koopman WJ, Willems PH, Smeitlink JA. "Monogenic Mitochondrial Disorders." The New England Journal Of Medicine (2012): MEDLINE with Full Text. Web. 06 April 2012.