Leila Ammar-Keskes

• Professor
• Professor at University of Sfax

Polycystic ovary syndrome (PCOS) is a common condition. Its pathophysiology involves an interaction between genetic and environmental factors, resulting in different reproductive and metabolic subtypes. Genetic variation in the angiotensin converting enzyme (ACE) gene has been implicated in the pathophysiology of the syndrome. Our project aims to i...

Background and Aims: Gut microbial imbalances are linked to colorectal cancer (CRC), but archaea’s role remains underexplored. Here, using previously published metagenomic data from different populations including Austria, Germany, Italy, Japan, China, and India, we performed bioinformatic and statistical analysis to identify archaeal taxonomic and...

Colorectal cancer (CRC) is a serious public health problem known to have a multifactorial etiology. The association between gut microbiota and CRC has been widely studied; however, the link between archaea and CRC has not been sufficiently studied. To investigate the involvement of archaea in colorectal carcinogenesis, we performed a metagenomic an...

Background & Aims: Gut microbial imbalances are linked to colorectal cancer (CRC), but archae-‎a's role remains underexplored. Here, we performed bioinformatic and statistical analysis looking ‎for archaeal taxonomic and functional signatures related to CRC. Methods: We analyzed pub-‎lished fecal metagenomic data from 390 subjects, comparing the ar...

Currently, colorectal cancer (CRC) represents the third most common malignancy and the second most deadly cancer worldwide, with a higher incidence in developed countries. Like other solid tumors, CRC is a heterogeneous genomic disease in which various alterations, such as point mutations, genomic rearrangements, gene fusions or chromosomal copy nu...

The aim of the present study was to clarify the implication of Y chromosome genetic variations and haplogroups in Tunisian infertile men. A total of 27 Y-chromosomal binary markers partial microdeletions (gr/gr, b1/b3 and b2/b3) and copy number variation of DAZ and CDY genes in the AZFc region were analysed in 131 Tunisian infertile men with sperma...

17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) converts Δ4-androstene-3,17-dione (androstenedione) to testosterone. It is expressed almost exclusively in the testes and is essential for appropriate male sexual development. More than 70 mutations in the HSD17B3 gene that cause 17β-HSD3 deficiency and result in 46,XY Disorders of Sex Development...

Colorectal cancer (CRC) is a growing public health challenge, featuring a multifactorial etiology and complex host–environment interactions. Recently, increasing evidence has pointed to the role of the gut microbiota in CRC development and progression. To explore the role of gut microbes in CRC, we retrieved metagenomic data from 156 stools from th...

La chaperonine Hsp60 mitochondrial (mtHsp60) est essentielle dans le système de repliement des protéines dans la matrice mitochondriale. En effet, elle facilite le repliement correct et l’assemblage des protéines importées à la mitochondrie et corrige les polypeptides mal repliés générés sous le stress oxydant mitochondrial. Il a été suggéré que le...

We report on the results of array-CGH and Whole exome sequencing (WES) studies carried out in a Tunisian family with 46,XX premature ovarian insufficiency (POI). This study has led to the identification of a familial Xp22.12 tandem duplication with a size of 559.4 kb, encompassing only three OMIM genes (RPS6KA3, SH3KBP1and EIF1AX), and a new hetero...

Persistent Mullerian duct syndrome (PMDS) is a congenital disorder related to male sexual development. PMDS is usually diagnosed during an inguinal hernia cure. The diagnosis of PMDS following a testicular germ cell tumor is less common. We report the cases of three infertile male patients who were diagnosed with PMDS after surgery for germ cell tu...

A high prevalence of genetic kidney disease in Tunisia has been detected, and their study provides very important clinical and genetic information. Autosomal dominant polycystic kidney disease (ADPKD) is one of the main causes of morbidity and mortality associated with the kidneys in Tunisia. We present here clinical and genetic characteristics of...

Objectif Discuter les particularités endocrinologiques des patients ayant le syndrome de Prader Willi (SPW). Méthodes Il s’agit d’une étude clinico-biologique portant sur 4 patients non apparentés ayant le SPW. Une confirmation moléculaire ainsi qu’une étude par FISH à la recherche d’une microdélétion de la région 15q11-q13 ont été réalisées dans...

Les mitochondries jouent un rôle vital pour fournir la cellule de l’énergie métabolique sous forme d’adénosine triphosphate par la phosphorylation oxydative. Ainsi, elles constituent la principale source des espèces réactives de l’oxygène (ROS) qui peuvent causer des dommages oxydatifs des complexes de la chaîne respiratoire mitochondriale. En effe...

Leukocytospermia was previously reported to affect sperm quality by the production of reactive oxygen species (ROS) leading to oxidative stress (OS). In turn, OS decreases sperm functional integrity, increases sperm DNA damage and ultimately alters fertility status. To elucidate the impact of leukocytospermia on sperm nuclear DNA integrity and mito...

The association of leukocytospermia with male fertility is still under debate. Our objective is to evaluate the impact of leukocytospermia on nuclear and mitochondrial DNA (mtDNA), on semen parameters as well as on biomarkers, which include oxidative stress and inflammatory cytokines, in Tunisian infertile men. The studied patients were divided int...

Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3‐CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development of various dysmorphic features in significant number of patients, facial recognition entity has not yet been establ...

Le stress oxydant reconnu comme une altération de l’homéostasie redox cellulaire est considéré comme un facteur principal dans la genèse du Diabète mitochondrial. En effet, l’excès des ROS (Reactive Oxygen Species) produits par la mitochondrie et le déficit en ATP conduisent à une diminution de l’insulinosécrétion. Le maintien d’un niveau non cytot...

Le syndrome de Rett (RTT), est une pathologie neurodéveloppementale progressive conduisant à un polyhandicap lourd associé à une déficience intellectuelle sévère. Il apparaît chez les jeunes filles avec une prévalence d’environ 1 cas sur 10 000 à 15 000 naissances. Les signes les plus distinctifs sont la déficience intellectuelle et motrice avec l’...

Introduction Le diabète mitochondrial (DM) est une forme monogénique rare de diabète et également divisé en type l et type 2. Il se caractérise par un fort regroupement familial de diabète avec une présence de transmission maternelle associée à une déficience auditive bilatérale dans la plupart des cas. La forme la plus courante de DM est associée...

Background Methotrexate (MTX) is a key drug in acute lymphoblastic leukemia (ALL) treatment; it inhibits DNA replication by blocking the conversion of 5, 10 Methylenetetrahydrofolate to 5-methylene tetrahydrofolate by methylenetetrahydrofolate reductase (MTHFR). Variants of the Methylenetetrahydrofolate reductase (MTHFR) and MTX related toxicities...

Pompe disease, a rare, autosomal, recessive, inherited, lysosomal storage disorder, is caused by mutations in the acid α-glucosidase (GAA) gene leading to a deficiency of the lysosomal GAA enzyme. Some GAA mutations eliminate all enzymatic activities, causing severe infantile Pompe disease; others allow residual GAA activity and lead to middle adul...

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic disease that has an adverse impact on the patients' health and quality of life. ADPKD is usually known as "adult-type disease," but rare cases have been reported in pediatric patients. We present here a 2-year-old Tunisian girl with renal cyst formation and her mother...

Background Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial clustering of diabetes with the presence of maternal transmission in conjunction with bilateral hearing impairment in most of the carriers. The most common form of MD is associated with the m.3243A...

Background Epithelioid angiomyolipoma (EAML) is a rare potentially malignant variant of renal angiomyolipoma (RAML). This study aims to determine whether RAML clinico-pathologic and molecular features (i.e. p53 gene abnormalities) differ significantly with regards to its histologic variant or to the presence of an epithelioid component within it....

This work aimed to explore the expression pattern of circulating miR-199a-3p, miR-21-5p and miR-let7i-3p in infertile women with dysregulated AMH levels. Quantitative real-time PCR was used to measure miR-199a-3p, miR-21-5p, and miR-let7i-3p expression levels in 60 plasma samples of infertile women with low or high AMH levels. Bioinformatic analyse...

Background Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients. Results We report for the first time thyroid function impairment in CDS. Among 12 investigated patients, 7 showed thyroid func...

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare group of disease that affect the tubules of the kidney. There are 4 known subtypes of ADTKD classified based on causative genes and clinical features. In our study, we aimed to identify the causative subtypes of ADTKD in a Tunisian ADTKD family (3 affected members), in whom stan...

Objective: Juvenile nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney. It represents the most frequent genetic cause of chronic renal failure in children. Methods: we investigated clinical and molecular features in two children with Juvenile nephronophthisis using firstly Multiplex ligation-dependent probe amplification...

Low phospholipid-associated cholelithiasis (LPAC) is characterized by the association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. In the present study, we reported a case of a 63-year-old woman, who presented a biliary pain beginning at the age of 30, recurrent after cholecystectomy,...

Tuberous sclerosis complex (TSC) syndrome is a neurocutaneous syndrome that affects the brain, skin, and kidneys that has an adverse impact on the patient's health and quality of life. There have been several recent advances that elucidate the genetic complex of this disorder that will help understand the basic neurobiology of this disorder. We rep...

Purpose To explore the three-dimensional (3D) organization of sperm genome in DPY19L2-deficient globozoospermic patients speculating a link between DPY19L2 and genome organization of sperm nucleus. Methods This is a study of chromatin organization in DPY19L2-deficient globozoospermic patients and healthy donors using three-dimensional fluorescence...

Introduction: Mitochondrial diseases are a group of disorders caused mainly by the impairment of the mitochondrial oxidative phosphorylation process, due to mutations either in the mitochondrial or nuclear genome. Among them, the mitochondrial neuro-gastrointestinal encephalo-myopathy (MNGIE) syndrome affects adolescents or young adults, and is mos...

Metachromatic leukodystrophy (MLD) is a neurodegenerative disorder characterized by progressive demyelination resulting from impaired degradation and thus the accumulation of cerebroside-3-sulfate (sulfatide). It is caused by the deficiency of arylsulfatase A (ARSA) enzyme which is encoded by the ARSA gene. The present study reports the clinical, m...

Les myopathies mitochondriales résultent d’un dysfonctionnement du métabolisme énergétique mitochondrial touchant en particulier les complexes de la chaîne respiratoire mitochondriale. Ainsi, des mutations dans des gènes mitochondriaux ou nucléaires impliqués dans la chaîne respiratoire sont responsables. Notre objectif est l’étude moléculaire des...

Le syndrome de Rett est une atteinte neurologique. Elle affecte presque exclusivement les filles avec une prévalence entre 1/10 000 à 1/15 000. Les signes les plus distinctifs sont la déficience intellectuelle et motrice avec l’apparition des mouvements stéréotypés des mains. L’objectif de cette étude est le séquençage automatique du gène MECP2, le...

Introduction: West Syndrome is a severe epileptic encephalopathy characterized by epileptic spasms, hypsarrhythmia, and regression of psychomotor acquisitions beginning in the first year of life. ARX and CDKL5 genes were identified as linked to the most frequent genetic causes of West Syndrome. Methods: The present study reports the clinical, mo...

Objectives: The study investigated the association between plasma homocysteine, folate and vitamin B12 with 5,10 methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), thymidylate synthase (TYMS 2R → 3R) and methionine synthase (MTR A2756G) polymorphisms and methotrexate (MTX) treatment and toxicity in Tunisian Rheumatoid arthritis (RA) pat...

Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most frequent genetic disorder of the kidneys, is characterized by a typical presenting symptoms include cysts development in different organs and a non-cysts manifestations. ADPKD is caused by mutations in PKD1 or PKD2 genes. In this study, we aimed to search for molecular causative defects...

Context: Primary congenital hypothyroidism (CH) affects about 1:3000 newborns worldwide and is mainly caused by defects in thyroid gland development (thyroid dysgenesis, TD) or hormone synthesis. A genetic cause is identified in less than 10% of TD patients. Our aim was to identify novel candidate genes in patients with TD using next-generation se...

Congenital heart defects represent a characteristic part of several genetic syndromes associated with chromosomal abnormalities such as 22q11.2 deletion syndrome; many genes located in this locus, mainly TBX1, are candidate genes for congenital heart defects. In our cohort of 27 subjects with congenital heart defect, both karyotype analysis and Flu...

Mitochondria play an essential role to supply the cell with metabolic energy in the form of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). As a consequence, they are also the primary source of cellular reactive oxygen species (ROS) which can cause oxidative damage of individual respiratory chain complexes. Indeed, affected...

Mitochondria are essential for early cardiac development and impaired mitochondrial function was described associated with heart diseases such as hypertrophic or dilated mitochondrial cardiomyopathy. In this study, we report a family including two individuals with severe dilated mitochondrial cardiomyopathy. The whole mitochondrial genome screening...

Leigh syndrome (LS) is a rare progressive neurodegenerative disorder occurring in infancy. The most common clinical signs reported in LS are growth retardation, optic atrophy, ataxia, psychomotor retardation, dystonia, hypotonia, seizures and respiratory disorders. The paper reported a manifestation of 3 Tunisian patients presented with LS syndrome...

Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (β subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitoch...

Mitochondrial diabetes (MD) is a heterogeneous disorder characterized by a chronic hyperglycemia and is maternally transmitted. Syndromic MD is a subgroup of MD including diabetic microangiopathy and macroangiopathy, in addition to extrapancreatic disorder. MD is caused by genetic mutations and deletions affecting mitochondrial DNA. This mitochondr...

Purpose: Chronic occupational exposure to ionizing radiation (IR) induces a wide spectrum of DNA damages. The aim of this study was to assess the frequencies of micronucleus (MN), sister chromatid exchanges (SCE) and to evaluate their association with XRCC1 399 Arg/Gln and XRCC3 241 Thr/Met polymorphisms in Hospital staff occupationally exposed to...

Introduction La pseudohypoparathyroïdie (PHP) est un spectre de maladies ayant en commun un défaut d’action de la PTH caractérisé par une grande variabilité d’expression clinique et génétique. Nous rapportons ici deux cas de PHP suivis à notre service. Observation 1 Il s’agit d’une patiente âgée de 25 ans, aux antécédents familiaux d’hypothyroïdie...

Introduction: West syndrome is a rare epileptic encephalopathy of early infancy, characterized by epileptic spasms, hypsarrhythmia, and psychomotor retardation beginning in the first year of life. Methods: The present study reports the clinical, molecular and bioinformatic investigation in the three studied West patients. Results: The results...

Background: The investigation of copy number variations (CNVs) analysis of candidate genes is currently an important research area in modulating human diseases. We aimed to quantify CNVs in glutathione S-transferase M1 (GSTM1) gene and determine its genetic contribution in Tunisian rheumatoid arthritis (RA) and its subsets through an innovative te...

Background/aim: Concerns about the detrimental effects of occupational and environmental exposure on male reproductive function have been raised by reports of declining sperm quality over the last decades. The aim of this study was to investigate the association between altered semen parameters and exposure to occupational risk factors as assessed...

Rett syndrome is an X-linked neurodevelopmental disorder, primarily caused by MECP2 mutations. In this study, clinical, molecular and bioinformatics analyses were performed in Rett patients to understand the relationship between MECP2 mutation type and the clinical severity. Two double MeCP2 mutations were detected: a novel one (p.G185 V in cis wit...

Background: Methylenetetrahydrofolate reductase (MTHFR; NM_005957.4) is the key enzyme for folate metabolism which plays in DNA biosynthesis and the epigenetic process of DNA methylation. MTHFR gene polymorphisms, the c. 677C>T and c.?1298A>C have been implicated as risk factors for several types of cancers as the acute leukemia. Aim: We have op...

Purpose: Ionizing radiation (IR) is considered as a diagnostic and therapeutic tool in medicine. However, chronic occupational exposure of medical staff to IR may affect the antioxidant status and, as result, DNA damage and cancers as well. The objective of our study was to evaluate the oxidative stress profile caused by IR in 29 Tunisian medical s...

Previous genome wide association studies (GWAS) and meta-analyses have enumerated several genes/loci in MHC region which are consistently associated with Rheumatoid Arthritis (RA) in different ethnic populations. Given the genetic heterogeneity of the disease, it’s necessary to replicate these susceptibility loci in other populations. In this case,...

Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective cellular energy production due to dysfunction of the mitochondrial respiratory chain, which is responsible for the generation of most cellular energy. Because cardiac muscles are one of the high energy demanding tissues, mitochondrial cardiomyopathies is one o...

Introduction L’analyse du sperme est d’une importance majeure dans l’exploration de l'infertilité masculine. Afin de s’assurer de la fiabilité des résultats rendus, l’implantation du management de qualité en spermiologie est devenue une nécessité.Le but de ce travail a été d’évaluer la variabilité intra- et inter-opérateurau cours de l’analyse des...

Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3) is an autosomal-recessive liver disease due to mutations in the ABCB4 gene encoding for the MDR3 protein. In the present study, we performed molecular and bioinformatic analyses in PFIC3 patients in order to understand the molecular basis of the disease. The three studied patients with PF...

Objectif Le syndrome d’Allgrove est une maladie rare associant une alacrymie, une achalasie, une Addison et des signes neurologiques peuvent être associés. Le gène AAAS responsable est localisé en 12q13. Notre objectif était l’étude moléculaire et génétique du syndrome d’Allgrove chez des patients maghrébins. Patients et méthodes Au cours de notre...

L’aménorrhée secondaire est une maladie génétique qui consiste en un blocage de la maturation folliculaire ou un épuisement folliculaire avant l’âge de 40 ans avec absence de règles pendant au moins trois mois consécutifs et ce après plusieurs années de cycles menstruels réguliers. En outre, l’ADN polymérase gamma (POLG1) est une enzyme qui intervi...

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations in both nuclear and mitochondrial DNA. In fact, mitochondrial DNA (mtDNA) defects are known to be associated with a large spectrum of human diseases and patients might...

Background/aims: Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of adrenal insufficiency, achalasia, and alacrima. This syndrome is caused by mutations in the AAAS gene. A major splice site mutation c.1331+1G>A was found previously in North African families affected by Allgrove syndrome. In this study, we analy...

Rett syndrome (RTT) whose major cause is the mutations in the X-linked MECP2 gene is a genetic disease that affects females. We screened two RTT patients using cytogenetic studies and in silico analysis as well as molecular analysis by the direct sequencing of MECP2. The cytogenetic results showed that although patient A was karyotypically normal,...

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. They can be caused by mutations in both nuclear and mitochondrial DNA. In fact, mitochondrial DNA (mtDNA) defects are known to be associated with a large spectrum of human diseases and patients might...

Recessive mutations of F13A gene are reported to be responsible of FXIIIA subunit deficiency (FXIIIA). In all, some intronic nucleotide changes identified in this gene were investigated by in-silico analysis and occasionally supported by experimental data or reported in some cases as a polymorphism. To determine the molecular defects responsible of...

The azoospermia factor c (AZFc) region harbors multi-copy genes that are expressed in the testis. Deletions of this region lead to reduced copy numbers of these genes. In this present study we aimed to determine the frequency of AZFc subdeletion in infertile and fertile men from Tunisia and to identify whether deletions of DAZ and CDY1 gene copies...

Mitochondrial diseases caused by mitochondrial dysfunction are a clinically and genetically, heterogeneous group of disorders involving multiple organs, particularly tissues with high-energy demand. Hearing loss is a recognized symptom of a number of mitochondrial diseases and can result from neuronal or cochlear dysfunction. The tissue affected in...

Background and aims: Allgrove syndrome is characterized by achalasia, alacrima, and adrenal insufficiency as well as being associated with progressive neurological signs. This is an autosomal recessive disorder due to mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes a protein of 546 amino acids, ALADIN. Mutations in th...

The aim of the study was to evaluate the antioxidant potential of hydroxytyrosol (HT) on human sperm quality during incubation in vitro. Semen samples collected from men attending the Laboratory of Histology-Embryology of Sfax Faculty of Medicine (Tunisia) for infertility investigations were evaluated for initial sperm parameters. Only normal selec...

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long chain fatty acids (VLCFAs) in plasma, adrenal, testicular, and nerve tissues. For this study, our objectiv...

17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is expressed almost exclusively in the testis and converts Δ4-androstene-3,17-dione to testosterone. Mutations in the HSD17B3 gene causing 17β-HSD3 deficiency are responsible for a rare recessive form of 46, XY Disorders of Sex Development (46, XY DSD). We report novel cases of Tunisian patients wi...

Mitochondrial diseases encompass a wide variety of pathologies characterized by a dysfunction of the mitochondrial respiratory chain resulting in an energy deficiency. The respiratory chain consists of five multi-protein complexes providing coupling between nutrient oxidation and phosphorylation of ADP to ATP. In the present report, we studied mito...

Background/aims: Allgrove syndrome is a rare autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. It is caused by mutations of the AAAS gene located on chromosome 12q13 encoding the WD-repeat protein ALADIN. The c.1331+1G>A mutation is one of the most common mutations described in the literature and was ide...

Objectifs Séquençage du gène HSD17B3 à la recherche des mutations responsable de 46, XY DSD chez des patientes Tunisiennes. Recherche d’un effet fondateur de la nouvelle mutation p.C206X dans la population tunisienne. Méthodes Séquençage automatique du gène HSD17B3 chez 9 patientes, étude fonctionnelle d’une nouvelle mutation en collaboration avec...

Les myopathies mitochondriales résultent d’un dysfonctionnement du métabolisme énergétique mitochondrial touchant en particulier les complexes de la chaîne respiratoire mitochondriale. Donc, des mutations dans des gènes mitochondriaux ou nucléaires impliqués dans la chaîne respiratoire sont responsables. Notre but est de séquencer les gènes mitocho...

Introduction: X-linked adrenoleukodystrophy is a neurodegenerative recessive disorder that affects the brain white matter and associated with adrenal insufficiency. It is characterized by an abnormal function of the peroxisomes, which leads to an accumulation of the Very Long Chain Fatty Acids (VLCFA) in plasma and tissues, especially in the corte...

Methotrexate (MTX) is a disease-modifying anti-rheumatic drug used in the treatment of rheumatoid arthritis (RA). It is the first line drug in the treatment of this disease. However, MTX-related adverse drug reactions (ADRs) are seen in 40 % of the patients. The aim of this study was to determine the impact of six genetic polymorphisms located in f...

X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and adrenal cortex secondary to mutations in the ABCD1 gene that encodes a peroxisomal membrane protein: the adrenoleukodystrophy protein. The disease is characterized by high concentrations of very long-chain fatty acids in plasma, adrenal, testicular and nervous tissues...

Mitochondrial diabetes (MD) is a heterogeneous disorder characterized by a chronic hyperglycemia, maternal transmission and its association with a bilateral hearing impairment. Several studies reported mutations in mitochondrial genes as potentially pathogenic for diabetes, since mitochondrial oxidative phosphorylation plays an important role in gl...