A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy

2004 ◽  
Vol 30 (1) ◽  
pp. 118-122 ◽  
Author(s):  
Lee-Jun C. Wong ◽  
Christopher Wladyka ◽  
Rebecca Mardach-Verdon
Keyword(s):  
Mitochondrial Dna ◽  
Duchenne Muscular Dystrophy ◽  
Family History ◽  
Muscular Dystrophy ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
History Of ◽  
Extensive Family

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.

Screening for Duchenne muscular dystrophy

PEDIATRICS ◽  
1977 ◽  
Vol 60 (2) ◽  
pp. 248-251
Author(s):  
Allen D. Roses ◽  
Garth A. Nicholson ◽  
Charles R. Roe
Keyword(s):  
Genetic Counseling ◽  
Duchenne Muscular Dystrophy ◽  
Family History ◽  
Muscular Dystrophy ◽  
Creatine Phosphokinase ◽  
Recessive Trait ◽  
History Of ◽  
New Mutations

Recently, it has been suggested that all newborn male infants be screened for Duchenne muscular dystrophy (DMD) by measuring creatine phosphokinase (CPK) levels.1,2 One of the main arguments for this approach is that mothers of affected infants who have no known family history of DMD can be counseled. Current genetic counseling advice, however, is based on a theory that many DMD patients represent new mutations.3-5 Zellweger and Antonik have stated the theory when they say, "DMD is inherited as an X-linked recessive trait in two-thirds of the cases, and is due to new mutations in the rest of the cases.l

scholarly journals The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNALeu(CUN) and is associated with dilated cardiomyopathy

2001 ◽  
Vol 9 (4) ◽  
pp. 311-315 ◽  
Author(s):  
Maurizia Grasso ◽  
Marta Diegoli ◽  
Agnese Brega ◽  
Carlo Campana ◽  
Luigi Tavazzi ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Dilated Cardiomyopathy ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals Intramyocellular lipid excess in the mitochondrial disorder MELAS

2017 ◽  
Vol 3 (3) ◽  
pp. e160 ◽  
Author(s):  
Sailaja Golla ◽  
Jimin Ren ◽  
Craig R. Malloy ◽  
Juan M. Pascual
Keyword(s):  
Mitochondrial Dna ◽  
Fat Metabolism ◽  
Mitochondrial Disorder ◽  
Scientific Investigation ◽  
Resonance Spectroscopy ◽  
Lipid Deposition ◽  
Metabolic Dysfunction ◽  
Intramyocellular Lipid ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

Objective:There is a paucity of objective, quantifiable indicators of mitochondrial disease available for clinical and scientific investigation.Methods:To this end, we explore intramyocellular lipid (IMCL) accumulation noninvasively by 7T magnetic resonance spectroscopy (MRS) as a reporter of metabolic dysfunction in MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). We reasoned that mitochondrial dysfunction may impair muscle fat metabolism, resulting in lipid deposition (as is sometimes observed in biopsies), and that MRS is well suited to quantify these lipids.Results:In 10 MELAS participants and relatives, IMCL abundance correlates with percent mitochondrial DNA mutation abundance and with disease severity.Conclusions:These results indicate that IMCL accumulation is a novel potential disease hallmark in MELAS.

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss

2009 ◽  
Vol 390 (3) ◽  
pp. 755-757 ◽  
Author(s):  
Haris Kokotas ◽  
Maria Grigoriadou ◽  
George S. Korres ◽  
Elisabeth Ferekidou ◽  
Eleftheria Papadopoulou ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

A deafness-associated mitochondrial DNA mutation altered the tRNASer(UCN) metabolism and mitochondrial function

Mitochondrion ◽  
2019 ◽  
Vol 46 ◽  
pp. 370-379 ◽  
Author(s):  
Ling Xue ◽  
Yaru Chen ◽  
Xiaowen Tang ◽  
Juan Yao ◽  
Huimin Huang ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Function ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals Detecting respiratory chain deficiency in osteoblasts of older patients

2021 ◽  
Author(s):  
Daniel Hipps ◽  
Philip Dobson ◽  
Charlotte Warren ◽  
David McDonald ◽  
Andrew Fuller ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mouse Model ◽  
Respiratory Chain ◽  
Nuclear Genome ◽  
Mitochondrial Dna Mutation ◽  
Human Osteoblasts ◽  
Dna Mutation ◽  
Respiratory Chain Deficiency ◽  
Age Related ◽  
Cellular Dysfunction

Mitochondria contain their own genome which encodes 13 essential mitochondrial proteins and accumulates somatic variants at up to 10 times the rate of the nuclear genome. These mitochondrial genome variants lead to respiratory chain deficiency and cellular dysfunction. Work with the PolgAmut/PolgAmut mouse model, which has a high mitochondrial DNA mutation rate, showed enhanced levels of age related osteoporosis in affected mice along with respiratory chain deficiency in osteoblasts. To explore whether respiratory chain deficiency is also seen in human osteoblasts with age, we developed a protocol and analysis framework for imaging mass cytometry (IMC) in bone tissue sections to analyse osteoblasts in situ. We have demonstrated significant increases in complex I deficiency with age in human osteoblasts. This work is consistent with findings from the PolgAmut/PolgAmut mouse model and suggests that respiratory chain deficiency, as a consequence of the accumulation of age related mitochondrial DNA mutations, may have a significant role to play in the pathogenesis of human age related osteoporosis.

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