Kearns Sayre Syndrome

•Download as PPT, PDF•

4 likes•4,101 views

sasukekakashi

Education Health & Medicine

Kearns-sayre syndrome Kearns-sayre syndrome is when the mitochondria in DNA becomes abnormal, and does not do its proper fucntions.

Description ,[object Object],[object Object]

Test and Diagnosis ,[object Object],[object Object],[object Object],[object Object]

Test and Diagnosis ,[object Object],[object Object],[object Object],[object Object],[object Object]

A case of kearns-sayre syndrome ,[object Object]

Future of Kearns-sayre syndrome ,[object Object]

What's hot

Fabry disease

Fatma Adel

Adenoleukodystrophy

Safia Andleeb

Mitochondrial diseases

Dr. Munish Kumar

Myotonic dystrophy

جهاد الخريصي

clinically isolated syndromes

Marfan syndrome

Marfan Syndrome

Cystinosis

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder. PWS is relatively common with an estimated prevalence worldwide in the range of 1 in 10,000 to 30,000 individuals Prader-Willi syndrome is due to absence of paternally expressed imprinted genes at 15q11.2-q13. PWS was first described by Prader et al. in 1956 and it is the first recognized disorder related to genomic imprinting in humans. PWS affects males and females with equal frequency and affects all races and ethnicities

Prader willi

had89

Fragile x syndrome

Nik Syamimi

Wilson’s disease

PS Deb

Prader willi syndrome

Bharat Pokhrel

A mitochondrion (singular of mitochondria) is part of every cell in the body that contains genetic material. Mitochondria are responsible for processing oxygen and converting substances from the foods we eat into energy for essential cell functions. The mitochondria of the zygote come from the oocyte, that is, from the mother and almost never from the sperm, form of transmission is called maternal inheritance Which mitochondrial gene is mutated. The extent of replicative segregation of the mutant mitochondrial genome during the early stages of embryonic development. The abundance of the mutant mitochondrial gene in a particular tissue. The threshold level of mutant mitochondrial DNA required in a tissue before an abnormality is evident clinically Mitochondrial disease affects tissues most highly dependent on ATP production *Nerves *Muscles Endocrine Kidney Low energy-requiring tissues are rarely directly affected, but may be secondarily Lung Connective tissue Symptoms can be intermittent Increased energy demand (illness, exercise) Decreased energy supply (fasting) Common feature myoclonus epilepsy, deafness, blindness, anemia, diabetes, seizures and loss of cerebral blood supply (stroke). Myoclonic epilepsy and ragged-red fiber disease (MERRF) MERRF is a member of a group of disorders called mitochondrial encephalomyopathies that feature mitochondrial defects with altered brain and muscle functions. The term “ragged red fibers” refers to large clumps of abnormal mitochondria that accumulate mostly in muscle cells and are stained red by a dye that is specific for complex II of the electron transport chain. rare, maternally inherited, heteroplasmic, (point mutation in tRNA lysine gene) Mutation is MTTK*MERRF8344G. MT means mitochondrial gene is mutated T means transfer RNA gene K means the single-letter amino acid designation for lysine MERRF means the clinical features 8344G means the mutant nucleotide is guanine (G) at nucleotide position 8344 If 90% of the mitochondria in nerve and muscle cells carry the MTTK*MERRF8344G mutation, then the defining symptoms of MERRF are present. Maternally inherited mitochondrial disease The MTTL1*MELAS3243G mutation accounts for more than 80% of the cases of MELAS. This base substitution is in one of the two mitochondrial transfer RNALeu genes. the A3243G mutation occurs in thetRNALeu(UUR) gene When this mutation is present in ≥90% of the mitochondrial DNA of muscle tissue, there is an increased likelihood of recurrent strokes, dementia, epilepsy, and ataxia. When heteroplasmy for the A3243G mutation is ~40% to 50%, chronic progressive external ophthalmoplegia (CPEO), myopathy, and deafness are likely to occur. Other MELAS mutations occur at sites 3252, 3271, and 3291 within the tRNALeu(UUR) gene and in the mitochondrial tRNAVal (MTTV) and COX III (MTCO3) genes. Reduced activities in Complexes I and IV are established

Mitochondrial disorders

Amr Saeed

Gene therapy for muscular dystrophy

Mohamed Elasaly, PT, CKTP, MSc Biotech.

Leber hereditary optic neuropathy

Dr Ramesh Krishnan

Multifactorial disorders

Mahin Nwx

Lysosomal storage diseases

Pradeep Mampilli

Mucopolysachridosis

Dr.Priyank shah

Inborn errors of metabolism

Dr. Arghya Deb

Myotonic muscle disorders

NeurologyKota

What's hot (20)

Fabry disease

Adenoleukodystrophy

Mitochondrial diseases

Myotonic dystrophy

clinically isolated syndromes

Marfan syndrome

Marfan Syndrome

Cystinosis

Prader willi

Fragile x syndrome

Wilson’s disease

Prader willi syndrome

Mitochondrial disorders

Gene therapy for muscular dystrophy

Leber hereditary optic neuropathy

Multifactorial disorders

Lysosomal storage diseases

Mucopolysachridosis

Inborn errors of metabolism

Myotonic muscle disorders

Viewers also liked

Síndrome de kearns sayre

Zellwenger Syndrome

Zellweger Syndrome

Zellweger syndrome

Zellweger's syndrome explained

Essence

Leigh's Disease

nehslilium

Leighs Disease Power Point

dayle1994

Enfermedades mitocondriales

Felipe Rodriguez Martinez

Génetica y Conducta. Definiciones

Rosamrodriguez2014

Melas

Dr. Saad Saleh Al Ani

Research Report - Lorena

Lorena Leung

Cell abberation

Maria Hazel Organo

Miopatías mitocondriales

Erick Antonio

Smart Strategies for Sales Communication Success

Deborah L. Brown Maher

Effective Communication For Sales

Merv Venegas

Softskill

Atul Jain

Introduction of Animal Genetics & History of Genetics

Aashish Patel

Congenital Adrenal Hyperplasia

Sana Mateen Munshi

Myopathies

Praveen Nagula

Homocystinuria

Mohamed Abed

Viewers also liked (20)

Síndrome de kearns sayre

Zellwenger Syndrome

Zellweger Syndrome

Zellweger syndrome

Zellweger's syndrome explained

Leigh's Disease

Leighs Disease Power Point

Enfermedades mitocondriales

Génetica y Conducta. Definiciones

Melas

Research Report - Lorena

Cell abberation

Miopatías mitocondriales

Smart Strategies for Sales Communication Success

Effective Communication For Sales

Softskill

Introduction of Animal Genetics & History of Genetics

Congenital Adrenal Hyperplasia

Myopathies

Homocystinuria

Similar to Kearns Sayre Syndrome

CADASIL FULL COMPREHENSIVE PRESENTATION PPT

prihealthcare82157

Polyglutaminedisorders

Dr Naresh Kancha

Mitochondria related diseases

Sanman samova

QPR-Diabetes

Shashidhar Venkatesh Murthy

QPR-Stroke

Shashidhar Venkatesh Murthy

Muscle Dystrophy

Dr Slayer

Dementia Power. Point

Hadi Ghafourian

QPR-CNS degenerations

Shashidhar Venkatesh Murthy

Neurological Disorders The Common Symptoms,.pptx

Sajag Gupta

Approach to leukodystrophy

Kirat Singh Grewal

Neurological Disorders The Common Symptoms,.pptx

Sajag Gupta

Neurological Disorders The Common Symptoms,.pptx

Sajag Gupta

MULTIPLE SCLEROSIS (1).pdf

AfiqAsraaf

Approach to white matter disease

NeurologyKota

Honors Thesis

Valentina Lozano

Jurnal Reading Radiologi PRES in children with kidney disease.pptx

ryanelmanar

Do You Know History of MSA-Multiple System Atrophy

The Multiple System Atrophy Coalition

QPR-Endocrine disorders

Shashidhar Venkatesh Murthy

Multiple sclerosis

vjcummins

Reversible cerebral vasoconstriction syndrome

Prisma Health Upstate

Similar to Kearns Sayre Syndrome (20)

CADASIL FULL COMPREHENSIVE PRESENTATION PPT

Polyglutaminedisorders

Mitochondria related diseases

QPR-Diabetes

QPR-Stroke

Muscle Dystrophy

Dementia Power. Point

QPR-CNS degenerations

Neurological Disorders The Common Symptoms,.pptx

Approach to leukodystrophy

Neurological Disorders The Common Symptoms,.pptx

MULTIPLE SCLEROSIS (1).pdf

Approach to white matter disease

Honors Thesis

Jurnal Reading Radiologi PRES in children with kidney disease.pptx

Do You Know History of MSA-Multiple System Atrophy

QPR-Endocrine disorders

Multiple sclerosis

Reversible cerebral vasoconstriction syndrome

Recently uploaded

ICT role in 21st century education and it's challenges.

MaryamAhmad92

On_Translating_a_Tamil_Poem_by_A_K_Ramanujan.pptx

Pooja Bhuva

Sociology 101 Demonstration of Learning Exhibit

jbellavia9

HMCS Vancouver Pre-Deployment Brief - May 2024 (Web Version).pptx

marlenawright1

How to setup Pycharm environment for Odoo 17.pptx

Celine George

SOC 101 Demonstration of Learning Presentation

camerronhm

Accessible Digital Futures project (20/03/2024)

Jisc

Beyond_Borders_Understanding_Anime_and_Manga_Fandom_A_Comprehensive_Audience_...

Pooja Bhuva

HMCS Max Bernays Pre-Deployment Brief (May 2024).pptx

Esquimalt MFRC

Application orientated numerical on hev.ppt

RamjanShidvankar

UGC NET Paper 1 Mathematical Reasoning & Aptitude.pdf

Nirmal Dwivedi

Interdisciplinary_Insights_Data_Collection_Methods.pptx

Pooja Bhuva

Micro-Scholarship, What it is, How can it help me.pdf

Poh-Sun Goh

COMMUNICATING NEGATIVE NEWS - APPROACHES .pptx

annathomasp01

Salient Features of India constitution especially power and functions

KarakKing

Plant propagation: Sexual and Asexual propapagation.pptx

UmeshTimilsina1

Wellbeing inclusion and digital dystopias.pptx

Jisc

Food safety_Challenges food safety laboratories_.pdf

Sherif Taha

Towards a code of practice for AI in AT.pptx

Jisc

Basic Civil Engineering notes first year Notes Building notes Selection of site for Building Layout of a Building What is Burjis, Mutam Building Bye laws Basic Concept of sunlight ventilation in building National Building Code of India Set back or building line Types of Buildings Floor Space Index (F.S.I) Institutional Vs Educational Building Components & function Sills, Lintels, Cantilever Doors, Windows and Ventilators Types of Foundation AND THEIR USES Plinth Area Shallow and Deep Foundation Super Built-up & carpet area Floor Area Ratio (F.A.R) RCC Reinforced Cement Concrete RCC VS PCC

Basic Civil Engineering first year Notes- Chapter 4 Building.pptx

Denish Jangid

Recently uploaded (20)

ICT role in 21st century education and it's challenges.

On_Translating_a_Tamil_Poem_by_A_K_Ramanujan.pptx

Sociology 101 Demonstration of Learning Exhibit

HMCS Vancouver Pre-Deployment Brief - May 2024 (Web Version).pptx

How to setup Pycharm environment for Odoo 17.pptx

SOC 101 Demonstration of Learning Presentation

Accessible Digital Futures project (20/03/2024)

Beyond_Borders_Understanding_Anime_and_Manga_Fandom_A_Comprehensive_Audience_...

HMCS Max Bernays Pre-Deployment Brief (May 2024).pptx

Application orientated numerical on hev.ppt

UGC NET Paper 1 Mathematical Reasoning & Aptitude.pdf

Interdisciplinary_Insights_Data_Collection_Methods.pptx

Micro-Scholarship, What it is, How can it help me.pdf

COMMUNICATING NEGATIVE NEWS - APPROACHES .pptx

Salient Features of India constitution especially power and functions

Plant propagation: Sexual and Asexual propapagation.pptx

Wellbeing inclusion and digital dystopias.pptx

Food safety_Challenges food safety laboratories_.pdf

Towards a code of practice for AI in AT.pptx

Basic Civil Engineering first year Notes- Chapter 4 Building.pptx