Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure

Sanaker, Petter Schandl; Husebye, Eystein S.; Fondenes, Ove; Bindoff, Laurence A.

doi:10.1111/j.1600-0404.2007.00850.x

Cited by 33 publications

(23 citation statements)

References 22 publications

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“…We rather hypothesized a diminished drive to hypercapnea or hypoxia which we considered to be due to disturbed central nervous breathing regulation. Recurrent respiratory insufficiency and depressed ventilatory drive to hypoxia or hypercapnia in mitochondrial diseases were occasionally described, especially in PEO and Kearns-Sayre syndrome [28][29][30]. The reduced ventilatory drive may cause recurrent life-threatening hypoventilation especially in relation to surgery, sedation or infection.…”

Section: Respiratory Chain Enzymesmentioning

confidence: 95%

A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation

Wolf

Obermaier-Kusser

Jacobs

et al. 2012

Journal of the Neurological Sciences

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Section: Respiratory Chain Enzymesmentioning

confidence: 95%

A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation

Wolf

Obermaier-Kusser

Jacobs

et al. 2012

Journal of the Neurological Sciences

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“…Mitochondrial function affects virtually all body systems, including the reproductive system. Major diseases associated with mitochondrial dysfunction include Parkinson's disease, diabetes mellitus, Kearns-Sayre syndrome, Alzheimer's disease; and the aging process (Scheffler, 2001;Sanaker et al, 2007). Furthermore, mitochondria have an essential role in apoptosis which has implications for cancer research, developmental biology, and senescence and death (Scheffler, 2001).…”

mentioning

confidence: 99%

Expression of mitochondrial transcription factor A (TFAM) during porcine gametogenesis and preimplantation embryo development

Antelman

Manandhar

et al. 2008

Journal Cellular Physiology

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Mitochondrial transcription factor A (TFAM) is responsible for stability, maintenance, and transcriptional control of mitochondrial DNA (mtDNA). We have studied the expression and distribution of TFAM in the gametes and preimplantation embryos of the domestic pig (Sus scrofa). We hypothesized that TFAM is not present in the boar sperm mitochondria to reduce the possibility of paternal mtDNA propagation in the progeny. In contrast, we anticipated that Tfam gene is expressed in a developmental stage-dependent manner in porcine oocytes and embryos. The appropriate TFAM band of 25 kDa was detected by Western blotting in ejaculated boar spermatozoa, as well as in porcine oocytes and zygotes. Boar sperm extracts also displayed several bands >25 kDa suggestive of post-translational modification by ubiquitination, confirmed by affinity purification of ubiquitinated proteins. TFAM immunoreactivity was relegated to the sperm tail principal piece and sperm head in fully differentiated spermatozoa. The content of Tfam mRNA increased considerably from the germinal vesicle to blastocyst stage and also between in vitro fertilized and cultured blastocysts compared to in vivo-derived blastocysts. TFAM protein accumulated in the oocytes during maturation and was reduced by proteolysis after fertilization. This pattern was not mirrored in parthenogenetically activated oocytes and zygotes reconstructed by SCNT, suggesting deviant processing of TFAM protein and transcript after oocyte/embryo manipulation. Thus, TFAM may exert a critical role in porcine gametogenesis and preimplantation embryo development. Altogether, our data on the role of TFAM in mitochondrial function and inheritance have broad implications for cell physiology and evolutionary biology.

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“…Boles et al (1998) published a case with mtDNA deletion and Addison disease as a prominent clinical feature. Sanaker et al (2007) reported a young woman who developed Addison disease, hypothyroidism, and glucose intolerance associated with thyroid peroxidase antibodies and adrenal 21-hydroxylase antibodies. Other endocrinopathies such as earlyonset diabetes mellitus (R€ otig et al 1993), growth hormone deficiency (G€ uc€ uyener et al 1998), and hypoparathyroidism (Cassandrini et al 2006) have also been report in patients with single mtDNA deletions.…”

Section: Discussionmentioning

confidence: 99%

Large Mitochondrial DNA Deletion in an Infant with Addison Disease

et al. 2011

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Background: Mitochondrial diseases are a group of disorders caused by mutations in nuclear DNA or mitochondrial DNA, usually involving multiple organ systems. Primary adrenal insufficiency due to mitochondrial disease is extremely infrequent and has been reported in association with mitochondrial DNA deletion syndromes such as Kearns-Sayre syndrome.Aim: To report a 3-year-old boy with Addison disease, congenital glaucoma, chronic pancreatitis, and mitochondrial myopathy due to large mitochondrial DNA deletion.Method: Molecular analysis of mitochondrial DNA samples obtained from peripheral blood, oral mucosa, and muscle tissue.Results: A novel large mitochondrial DNA deletion of 7,372 bp was identified involving almost all genes on the big arch of mtDNA.Conclusions: This case reaffirms the association of adrenal insufficiency and mitochondrial DNA deletions and presents new evidence that glaucoma is another manifestation of mitochondrial diseases. Due to the genetic and clinical heterogeneity of mitochondrial disorders, molecular analysis is crucial to confirm diagnosis and to allow accurate genetic counseling.

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Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure

Cited by 33 publications

References 22 publications

A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation

A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation

Expression of mitochondrial transcription factor A (TFAM) during porcine gametogenesis and preimplantation embryo development

Large Mitochondrial DNA Deletion in an Infant with Addison Disease

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