Shamim I. Ahmad earned hisMaster’s degree in Botany fromPatna University, Bihar, India, andhis PhD in Molecular Geneticsfrom Leicester University, England.He then joined NottinghamPolytechnic as a grade 1 lecturer and subsequently waspromoted to the post of Senior Lecturer. Ahmad nowspends much of his time producing/writing medicalbooks. For more than three decades he researched differentareas of molecular biology/genetics including thyminelessdeath in bacteria, genetic control of nucleotidecatabolism, development of anti-AIDs drug, control ofmicrobial infection of burns, phages of thermophilic bacteria,and microbial flora of Chernobyl after the nuclearpower station accident. But his main interest is DNAdamage and repair specifically by near-ultraviolet lightmostly through the photolysis of biological compounds,production of reactive oxygen species, and their implicationson human health including skin cancer. He alsoinvestigates near-ultraviolet photolysis of non-biologicalcompounds such as 8-metoxypsoralen, mitomycin C, andtheir importance in psoriasis treatment and in Fanconianemia. He has collaborated with the University ofOsaka, Japan, and he and his colleagues were able toshow that a number of naturally occurring enzymes wereable to scavenge the reactive oxygen species.In 2003 he received a prestigious Asian Jewel Awardin Britain for Excellence in Education. His long time ambitionto produce medical books started in 2007 and sincethen he has published Molecular mechanisms of FanconiAnemia, Molecular Mechanisms of Xeroderma Pigmentosum;Molecular Mechanisms of Cockayne Syndrome;Molecular Mechanisms of Ataxia Telangiectasia; Diseasesof DNA repair; Neurodegenerative diseases; Diabetes: anOld Disease a New Insight, Obesity: a Practical Guide,Thyroid: Basic Science and Clinical Practice, and Ultravioletlight in Human Health, diseases and environment; alsoas a co-author the book on Diabetes: A comprehensiveTreatise for patients and Caregivers. His most recent booksare Reactive Oxygen Species in Biology and Human Healthand Aging: Exploring a Complex Phenomenon.

"This book presents a compilation of the current knowledge associated withmitochondrial dysfunction. Although titled as a handbook, it represents atextbook that covers multiple aspects of the role of mitochondria in humandisease. It is an extensive and detailed review of the biological importance ofmitochondria." - Luis F Escobar, MD., MS., Peyton Manning Children's Hospital

• Preface ........................................................................................................................................................................... xiAcknowledgment......................................................................................................................................................... xiiiAbout the Editor .......................................................................................................................................................... xvContributors ............................................................................................................................................................... xviiSECTION I Introduction: Structure and Function of MitochondriaChapter 1 Mitochondrial Structure and Function ....................................................................................................... 3Marcos Roberto de OliveiraChapter 2 Structure, Function and Evolutionary Aspects of Mitochondria ................................................................ 9Puja Agarwal, Mehali Mitra, and Sujit RoyChapter 3 Mitochondrial Genome Damage, Dysfunction and Repair ........................................................................23Kalyan Mahapatra, Sayanti De, and Sujit RoySECTION II Mitochondrial Dysfunction and DiseasesChapter 4 Instability of Human Mitochondrial DNA, Nuclear Genes and Diseases ..................................................39Katarzyna To?skaChapter 5 Kearns-Sayre Syndrome .............................................................................................................................55Josef FinstererChapter 6 Mitochondrial Dysfunction and Barth Syndrome......................................................................................61Arianna F. Anzm

Shamim I. Ahmad earned hisMaster’s degree in Botany fromPatna University, Bihar, India, andhis PhD in Molecular Geneticsfrom Leicester University, England.He then joined NottinghamPolytechnic as a grade 1 lecturer and subsequently waspromoted to the post of Senior Lecturer. Ahmad nowspends much of his time producing/writing medicalbooks. For more than three decades he researched differentareas of molecular biology/genetics including thyminelessdeath in bacteria, genetic control of nucleotidecatabolism, development of anti-AIDs drug, control ofmicrobial infection of burns, phages of thermophilic bacteria,and microbial flora of Chernobyl after the nuclearpower station accident. But his main interest is DNAdamage and repair specifically by near-ultraviolet lightmostly through the photolysis of biological compounds,production of reactive oxygen species, and their implicationson human health including skin cancer. He alsoinvestigates near-ultraviolet photolysis of non-biologicalcompounds such as 8-metoxypsoralen, mitomycin C, andtheir importance in psoriasis treatment and in Fanconianemia. He has collaborated with the University ofOsaka, Japan, and he and his colleagues were able toshow that a number of naturally occurring enzymes wereable to scavenge the reactive oxygen species.In 2003 he received a prestigious Asian Jewel Awardin Britain for Excellence in Education. His long time ambitionto produce medical books started in 2007 and sincethen he has published Molecular mechanisms of FanconiAnemia, Molecular Mechanisms of Xeroderma Pigmentosum;Molecular Mechanisms of Cockayne Syndrome;Molecular Mechanisms of Ataxia Telangiectasia; Diseasesof DNA repair; Neurodegenerative diseases; Diabetes: anOld Disease a New Insight, Obesity: a Practical Guide,Thyroid: Basic Science and Clinical Practice, and Ultravioletlight in Human Health, diseases and environment; alsoas a co-author the book on Diabetes: A comprehensiveTreatise for patients and Caregivers. His most recent booksare Reactive Oxygen Species in Biology and Human Healthand Aging: Exploring a Complex Phenomenon.

"This book presents a compilation of the current knowledge associated withmitochondrial dysfunction. Although titled as a handbook, it represents atextbook that covers multiple aspects of the role of mitochondria in humandisease. It is an extensive and detailed review of the biological importance ofmitochondria." - Luis F Escobar, MD., MS., Peyton Manning Children's Hospital

• Preface ........................................................................................................................................................................... xiAcknowledgment......................................................................................................................................................... xiiiAbout the Editor .......................................................................................................................................................... xvContributors ............................................................................................................................................................... xviiSECTION I Introduction: Structure and Function of MitochondriaChapter 1 Mitochondrial Structure and Function ....................................................................................................... 3Marcos Roberto de OliveiraChapter 2 Structure, Function and Evolutionary Aspects of Mitochondria ................................................................ 9Puja Agarwal, Mehali Mitra, and Sujit RoyChapter 3 Mitochondrial Genome Damage, Dysfunction and Repair ........................................................................23Kalyan Mahapatra, Sayanti De, and Sujit RoySECTION II Mitochondrial Dysfunction and DiseasesChapter 4 Instability of Human Mitochondrial DNA, Nuclear Genes and Diseases ..................................................39Katarzyna To?skaChapter 5 Kearns-Sayre Syndrome .............................................................................................................................55Josef FinstererChapter 6 Mitochondrial Dysfunction and Barth Syndrome......................................................................................61Arianna F. Anzm

Shamim I. Ahmad earned hisMaster’s degree in Botany fromPatna University, Bihar, India, andhis PhD in Molecular Geneticsfrom Leicester University, England.He then joined NottinghamPolytechnic as a grade 1 lecturer and subsequently waspromoted to the post of Senior Lecturer. Ahmad nowspends much of his time producing/writing medicalbooks. For more than three decades he researched differentareas of molecular biology/genetics including thyminelessdeath in bacteria, genetic control of nucleotidecatabolism, development of anti-AIDs drug, control ofmicrobial infection of burns, phages of thermophilic bacteria,and microbial flora of Chernobyl after the nuclearpower station accident. But his main interest is DNAdamage and repair specifically by near-ultraviolet lightmostly through the photolysis of biological compounds,production of reactive oxygen species, and their implicationson human health including skin cancer. He alsoinvestigates near-ultraviolet photolysis of non-biologicalcompounds such as 8-metoxypsoralen, mitomycin C, andtheir importance in psoriasis treatment and in Fanconianemia. He has collaborated with the University ofOsaka, Japan, and he and his colleagues were able toshow that a number of naturally occurring enzymes wereable to scavenge the reactive oxygen species.In 2003 he received a prestigious Asian Jewel Awardin Britain for Excellence in Education. His long time ambitionto produce medical books started in 2007 and sincethen he has published Molecular mechanisms of FanconiAnemia, Molecular Mechanisms of Xeroderma Pigmentosum;Molecular Mechanisms of Cockayne Syndrome;Molecular Mechanisms of Ataxia Telangiectasia; Diseasesof DNA repair; Neurodegenerative diseases; Diabetes: anOld Disease a New Insight, Obesity: a Practical Guide,Thyroid: Basic Science and Clinical Practice, and Ultravioletlight in Human Health, diseases and environment; alsoas a co-author the book on Diabetes: A comprehensiveTreatise for patients and Caregivers. His most recent booksare Reactive Oxygen Species in Biology and Human Healthand Aging: Exploring a Complex Phenomenon.

"This book presents a compilation of the current knowledge associated withmitochondrial dysfunction. Although titled as a handbook, it represents atextbook that covers multiple aspects of the role of mitochondria in humandisease. It is an extensive and detailed review of the biological importance ofmitochondria." - Luis F Escobar, MD., MS., Peyton Manning Children's Hospital

• Preface ........................................................................................................................................................................... xiAcknowledgment......................................................................................................................................................... xiiiAbout the Editor .......................................................................................................................................................... xvContributors ............................................................................................................................................................... xviiSECTION I Introduction: Structure and Function of MitochondriaChapter 1 Mitochondrial Structure and Function ....................................................................................................... 3Marcos Roberto de OliveiraChapter 2 Structure, Function and Evolutionary Aspects of Mitochondria ................................................................ 9Puja Agarwal, Mehali Mitra, and Sujit RoyChapter 3 Mitochondrial Genome Damage, Dysfunction and Repair ........................................................................23Kalyan Mahapatra, Sayanti De, and Sujit RoySECTION II Mitochondrial Dysfunction and DiseasesChapter 4 Instability of Human Mitochondrial DNA, Nuclear Genes and Diseases ..................................................39Katarzyna To?skaChapter 5 Kearns-Sayre Syndrome .............................................................................................................................55Josef FinstererChapter 6 Mitochondrial Dysfunction and Barth Syndrome......................................................................................61Arianna F. Anzm