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Specialty: Genetics & Stem Cells
Source: Molecular Genetics and Metabolism Reports

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Total 22 results found since Jan 2013.

Case report: 5year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)
We describe the follow-up of a patient who was diagnosed with late-onset MELAS at the age of 49. Her clinical course includes sensorineural hearing loss, seizures, and multiple episodes of stroke-like metabolic crises. Molecular genetic testing on whole blood revealed 31% heteroplasmy of a m.3243A>G variant in the mtDNA, the causative variant in approximately 80% of MELAS cases. The original diagnostic criteria for MELAS required the onset of stroke-like episodes prior to 40years of age but this case and others demonstrate that onset may be delayed in certain individuals. Therefore, MELAS should be included in the d...
Source: Molecular Genetics and Metabolism Reports - November 18, 2016 Category: Genetics & Stem Cells Source Type: research

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
We report on a new phenotype of COQ4 deficiency: a childhood onset spinocerebellar ataxia with stroke-like episodes.
Source: Molecular Genetics and Metabolism Reports - September 13, 2018 Category: Genetics & Stem Cells Source Type: research

Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina
Conclusions We observed a few major complications during the follow up. Future studies are necessary to show the effectiveness of ERT in affected patients.
Source: Molecular Genetics and Metabolism Reports - May 5, 2017 Category: Genetics & Stem Cells Source Type: research

Arrhythmia as a cardiac manifestation in MELAS syndrome
Publication date: September 2015 Source:Molecular Genetics and Metabolism Reports, Volume 4 Author(s): Tamara Thomas , William J. Craigen , Ryan Moore , Richard Czosek , John L. Jefferies A 44-year-old female with a diagnosis of mitochondrial myopathy, encephalopathy and stroke-like episodes (MELAS) syndrome had progressive left ventricular hypertrophy (LVH) on echocardiogram. A Holter monitor demonstrated episodes of non-sustained atrial tachycardia, a finding not been previously described in this population. This unique case of MELAS syndrome demonstrates the known associated cardiac manifestation of LVH and the new fi...
Source: Molecular Genetics and Metabolism Reports - June 3, 2015 Category: Genetics & Stem Cells Source Type: research

The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene
Publication date: March 2016 Source:Molecular Genetics and Metabolism Reports, Volume 6 Author(s): E. Keilland, C.A. Rupar, Asuri N. Prasad, K.Y. Tay, A. Downie, C. Prasad m.3291T>C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (>7years) and management in a Caucasian family with MELAS due to the m.3291T>C mutation an...
Source: Molecular Genetics and Metabolism Reports - February 22, 2016 Category: Genetics & Stem Cells Source Type: research

The expanding phenotype of MELAS caused by the m.3291T & gt;C mutation in the MT-TL1 gene
Publication date: March 2016 Source:Molecular Genetics and Metabolism Reports, Volume 6 Author(s): E. Kelland, C.A. Rupar, Asuri N. Prasad, K.Y. Tay, A. Downie, C. Prasad m.3291T>C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (>7years) and management in a Caucasian family with MELAS due to the m.3291T>C mutation and...
Source: Molecular Genetics and Metabolism Reports - July 20, 2016 Category: Genetics & Stem Cells Source Type: research

Mitochondrial m.3243A & gt;G mutation and carotid artery dissection
Publication date: December 2016 Source:Molecular Genetics and Metabolism Reports, Volume 9 Author(s): Michelangelo Mancuso, Vincenzo Montano, Daniele Orsucci, Lorenzo Peverelli, Luigi Caputi, Paola Gambaro, Gabriele Siciliano, Costanza Lamperti The common m.3243A>G mutation of the mitochondrial DNA tRNALeu (UUR) gene is a maternally inherited mutation causing a wide spectrum of neurological and multisystemic disorders, including MELAS, characterized by recurrent cerebral infarction from young age. Vascular pathology in mitochondrial diseases has been described for small vessels, while large vessels involvement in m...
Source: Molecular Genetics and Metabolism Reports - August 31, 2016 Category: Genetics & Stem Cells Source Type: research

Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology
Publication date: March 2017 Source:Molecular Genetics and Metabolism Reports, Volume 10 Author(s): J. Gass, H.K Atwal, P.S. Atwal
Source: Molecular Genetics and Metabolism Reports - January 10, 2017 Category: Genetics & Stem Cells Source Type: research

Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease
We report a case involving a 27-year-old male with extreme terminal pain, anhidrosis, abdominal pain, tinnitus, hearing impairment, cornea verticillata, and recurrent huge ulcers in the lower extremities. At the age of 16years, he was diagnosed with Fabry disease with a positive family history and very low α-gal A activity. He then received enzyme replacement therapy (ERT) with recombinant human agalsidase beta at 1mg/kg every 2weeks for 10years. Throughout the course of ERT, his leg ulcers recurred, and massive excretion of urinary globotriaosylceramide and plasma globotriaosylsphingosine was observed. Electron microscop...
Source: Molecular Genetics and Metabolism Reports - December 22, 2017 Category: Genetics & Stem Cells Source Type: research

S-adenosylhomocysteine hydrolase over-expression does not alter S-adenosylmethionine or S-adenosylhomocysteine levels in CBS deficient mice
Publication date: June 2018 Source:Molecular Genetics and Metabolism Reports, Volume 15 Author(s): Hyung-Ok Lee, Liqun Wang, Yin-Ming Kuo, Andrew J. Andrews, Sapna Gupta, Warren D. Kruger Elevated plasma total homocysteine (tHcy) is associated with a number of human diseases including coronary artery disease, stroke, osteoporosis and dementia. It is highly correlated with intracellular S-adenosylhomocysteine (SAH). Since SAH is a strong inhibitor of methyl-transfer reactions involving the methyl-donor S-adenosylmethionine (SAM), elevation in SAH could be an explanation for the wide association of tHcy and human disease. H...
Source: Molecular Genetics and Metabolism Reports - February 27, 2018 Category: Genetics & Stem Cells Source Type: research

A beneficial effect of l-arginine for stroke-like episodes is currently unsupported
Publication date: June 2018 Source:Molecular Genetics and Metabolism Reports, Volume 15 Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub
Source: Molecular Genetics and Metabolism Reports - February 27, 2018 Category: Genetics & Stem Cells Source Type: research

Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous l-arginine
Publication date: June 2018 Source:Molecular Genetics and Metabolism Reports, Volume 15 Author(s): Rebecca D. Ganetzky, Marni J. Falk
Source: Molecular Genetics and Metabolism Reports - March 10, 2018 Category: Genetics & Stem Cells Source Type: research

A beneficial effect of l-arginine for stroke-like episodes is currently unsupported
Publication date: June 2018Source: Molecular Genetics and Metabolism Reports, Volume 15Author(s): Josef Finsterer, Sinda Zarrouk-Mahjoub
Source: Molecular Genetics and Metabolism Reports - July 6, 2018 Category: Genetics & Stem Cells Source Type: research

S-adenosylhomocysteine hydrolase over-expression does not alter S-adenosylmethionine or S-adenosylhomocysteine levels in CBS deficient mice
Publication date: June 2018Source: Molecular Genetics and Metabolism Reports, Volume 15Author(s): Hyung-Ok Lee, Liqun Wang, Yin-Ming Kuo, Andrew J. Andrews, Sapna Gupta, Warren D. KrugerAbstractElevated plasma total homocysteine (tHcy) is associated with a number of human diseases including coronary artery disease, stroke, osteoporosis and dementia. It is highly correlated with intracellular S-adenosylhomocysteine (SAH). Since SAH is a strong inhibitor of methyl-transfer reactions involving the methyl-donor S-adenosylmethionine (SAM), elevation in SAH could be an explanation for the wide association of tHcy and human disea...
Source: Molecular Genetics and Metabolism Reports - July 6, 2018 Category: Genetics & Stem Cells Source Type: research