scholarly journals The effects of coenzyme Q 10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation

Diabetologia ◽  
1998 ◽  
Vol 41 (5) ◽  
pp. 584-588 ◽  
Author(s):  
S. Suzuki ◽  
Y. Hinokio ◽  
M. Ohtomo ◽  
M. Hirai ◽  
A. Hirai ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Coenzyme Q ◽  
Inherited Diabetes

Audiologic Findings in Patients with a Point Mutation at Nucleotide 3,243 of Mitochondrial Dna

1997 ◽  
Vol 106 (4) ◽  
pp. 338-342 ◽  
Author(s):  
Ken Kitamura ◽  
Masatoyo Nishizawa ◽  
Yuya Tamagawa ◽  
Hideo Hagiwara ◽  
Toshikazu Sajto ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Mitochondrial Myopathy ◽  
Speech Discrimination ◽  
Mitochondrial Trna ◽  
Significant Difference ◽  
Advanced Stages ◽  
Common Shape ◽  
Inherited Diabetes

A mitochondrial tRNALeu(UUR) mutation at nucleotide 3,243 is known to be found in most patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) and has also been identified in several families with maternally inherited diabetes mellitus and hearing loss. We report here audiologic features in patients with hearing loss associated with the mutation. Four patients without and five with MELAS were studied. Most of the patients had bilateral progressive sensorineural hearing loss. The most common shape of the audiogram was sloping, while cases in the advanced stages had flat audiograms. Speech discrimination scores were generally poor and did not parallel the degree of hearing loss. The present study suggests that the lesion for hearing loss could include both cochlear and retrocochlear involvement, but does not demonstrate a significant difference in the audiologic findings between patients with and without MELAS.

Association of the T14709C mutation of mitochondrial DNA with maternally inherited diabetes mellitus and/or deafness in an Italian family

2001 ◽  
Vol 18 (4) ◽  
pp. 334-336 ◽  
Author(s):  
L. Rigoli ◽  
F. Prisco ◽  
R. A. Caruso ◽  
D. Iafusco ◽  
G. Ursomanno ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Italian Family ◽  
Inherited Diabetes

Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus

1999 ◽  
Vol 36 (3) ◽  
pp. 163-167 ◽  
Author(s):  
L. Rigoli ◽  
D.C. Salpietro ◽  
R.A. Caruso ◽  
A. Chiarenza ◽  
I. Barberi
Keyword(s):  
Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Inherited Diabetes

THE ROLE OF HETEROPLASMY IN THE DIAGNOSIS AND MANAGEMENT OF MATERNALLY INHERITED DIABETES AND DEAFNESS

2020 ◽  
Vol 26 (2) ◽  
pp. 241-246 ◽  
Author(s):  
Katie Nahay Robinson ◽  
Sari Terrazas ◽  
Samantha Giordano-Mooga ◽  
Neena A. Xavier
Keyword(s):  
Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Gastrointestinal Disease ◽  
Clinical Manifestations ◽  
Mitochondrial Diseases ◽  
Signs And Symptoms ◽  
Mtdna Sequence ◽  
Scientific Papers ◽  
Organ Specific ◽  
Inherited Diabetes

Objective: Maternally inherited diabetes and deafness (MIDD) is a rare diabetic syndrome mainly caused by a point mutation in the mitochondrial DNA (mtDNA), mt3243 adenine to guanine (A>G). The objective of this paper is to review the genetic inheritance, clinical manifestations, and treatment of patients with MIDD. Methods: The current review used a literature search of scientific papers on this rare syndrome. Results: mtDNA is primarily inherited through the maternal oocyte; therefore, the genetic abnormalities in MIDD are associated with maternal inheritance. Mitochondria contain circular mtDNA, which codes for various mitochondrial genes. The mtDNA can be heteroplasmic, containing more than one type of mtDNA sequence; if one of the mtDNAs contains the mt3243 A>G mutation, a patient may develop MIDD. Patients can inherit different amounts of mutated mtDNA and normal mtDNA that affect the severity of the clinical manifestations of MIDD. The most common clinical manifestations include diabetes mellitus, deafness, ophthalmic disease, cardiac disease, renal disease, gastrointestinal disease, short stature, and myopathies. In order to effectively treat patients with MIDD, it is important to recognize the underlying pathophysiology of this specific form of diabetes and the pathophysiology associated with the organ-specific complications present in this disease. Conclusion: The heteroplasmic inheritance of mutated mtDNA plays an important role in the clinical manifestations of various mitochondrial diseases, specifically MIDD. This review will alert endocrinologists of the signs and symptoms of MIDD and important clinical considerations when managing this disease. Abbreviations: ATP = adenosine triphosphate; CoQ10 = coenzyme Q10; MELAS = mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MIDD = maternally inherited diabetes and deafness; mtDNA = mitochondrial DNA; tRNA = transfer ribonucleic acid; ROS = reactive oxygen species; T2DM = type 2 diabetes mellitus

scholarly journals Family Phenotypic Heterogeneity Caused by Mitochondrial DNA Mutation A3243G

2017 ◽  
Vol 30 (7-8) ◽  
pp. 581 ◽  
Author(s):  
Daniela Alves ◽  
Maria Eufémia Calmeiro ◽  
Carmo Macário ◽  
Rosa Silva
Keyword(s):  
Diabetes Mellitus ◽  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Diagnostic Challenge ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
History Of ◽  
Monogenic Forms Of Diabetes ◽  
Inherited Diabetes ◽  
Relevant Family History

Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient’s mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge. This condition should be considered whenever there is a history of diabetes associated with hearing loss and a relevant family history. Cardiopathy is also known to be an important feature of mitochondrial disease. In order to identify this aetiology, family screening, genetic counselling and screening of associated comorbidities are encouraged.

Diabetes mellitus bei Kindern und Jugendlichen

2007 ◽  
Vol 7 (04) ◽  
pp. 203-208
Author(s):  
Wieland Kiess ◽  
Thomas Kapellen ◽  
Angela Galler
Keyword(s):  
Diabetes Mellitus ◽  
Diabetes Mellitus Typ 2 ◽  
Maturity Onset Diabetes ◽  
Genetische Diagnostik ◽  
Diabetes Mellitus Typ 1 ◽  
Genetische Faktoren ◽  
Onset Diabetes ◽  
Inherited Diabetes

ZusammenfassungGene spielen bei der Pathogenese des Diabetes mellitus eine wichtige Rolle. Die häufigste Form bei Kindern und Jugendlichen ist der Diabetes mellitus Typ 1. Bei vorhandener genetischer Prädisposition kann durch verschiedene Umweltfaktoren eine Autoimmunreaktion ausgelöst werden, welche durch Zerstörung der Betazellen zum Insulinmangel und somit zum Diabetes mellitus Typ 1 führt. Beim Diabetes mellitus Typ 2, welcher bei der zunehmenden Adipositas im Kindes- und Jugendalter in den letzten Jahren in Deutschland häufiger zu beobachten ist, spielen genetische Faktoren eine entscheidende Rolle. Der Diabetes mellitus Typ 2 wird polygen vererbt. Bisher liegen jedoch nur unzureichende Daten vor, um eine genetische Diagnostik in der Praxis sinnvoll erscheinen zu lassen. Bei einer Reihe von weiteren Diabetestypen ist deren genetische Ursache in den letzten Jahrzehnten geklärt worden. Eine genetische Diagnostik ist in diesen Fällen notwendig und sinnvoll. Der Maturity Onset Diabetes of the Young (MODY) fällt meist durch seine im Vergleich zum Diabetes mellitus Typ 1 mildere Verlaufsform auf und wird mit einer Häufigkeit von 5–10% aller Diabetesformen beziffert. Der MODY Typ 2 wird durch eine Mutation im Glukokinase-Gen hervorgerufen, der MODY Typ 3 durch eine Mutation im HNF-1α-Gen. Der mitochondriale Diabetes mellitus wird aufgrund der häufig auftretenden Schwerhörigkeit auch als MIDD (Maternally Inherited Diabetes and Deafness) bezeichnet und durch Mutationen im mitochondrialen Genom hervorgerufen. Weiterhin wurden in den letzten Jahren verschiedene Genmutationen beim sehr seltenen neonatalen Diabetes mellitus (transienter und permanenter neonataler Diabetes mellitus) aufgeklärt.

scholarly journals Chromium and cobalt intoxication mimicking mitochondriopathy

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Tim W. Rattay ◽  
Torsten Kluba ◽  
Ludger Schöls
Keyword(s):  
Diabetes Mellitus ◽  
Weight Loss ◽  
Mitochondrial Dna ◽  
Wear Debris ◽  
Hip Prosthesis ◽  
Mitochondrial Cytopathy ◽  
Whole Exome ◽  
Metal On Metal ◽  
Metal Wear ◽  
History Of

AbstractA 53-year old male with a history of progressive visual impairment, hearing loss, peripheral neuropathy, poorly controlled diabetes mellitus, cardiomyopathy, and weight loss was referred to the rare disease center due to the suspicion of mitochondrial cytopathy. In line with mitochondrial dysfunction, lactate in CSF was increased. Genetic testing by whole-exome sequencing and mitochondrial DNA did not reveal a likely cause. The case remained unsolved until he developed pain in his right hip, where he had received total hip arthroplasty 12 years earlier. An orthopedic evaluation revealed substantial shrinkage of the head of the hip prosthesis. Due to metal-on-metal wear, debris chromium and cobalt levels in serum were massively increased and significantly improved with multisystemic impairment after exchanging the defective implant.

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