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Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Yvonne L. Latour, Robin Yoon, Sarah E. Thomas, Christina Grant, Cuiling Li, Miguel Sena-Esteves, Maria L. Allende, Richard L. Proia, Cynthia J. TifftAbstractGM1 gangliosidosis is an autosomal recessive neurodegenerative disorder caused by the deficiency of lysosomal β-galactosidase (β-gal) and resulting in accumulation of GM1 ganglioside. The disease spectrum ranges from infantile to late onset and is uniformly fatal, with no effective therapy currently available. Although animal models have been useful for understanding...
Source: Molecular Genetics and Metabolism Reports - September 12, 2019 Category: Genetics & Stem Cells Source Type: research

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Josef Finsterer (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 12, 2019 Category: Genetics & Stem Cells Source Type: research

Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Susanne Gustavsson, Elisabet Ohlin Sjöström, Agneta Tjernberg, Juliette Janson, Ulrica Westermark, Tommy Andersson, Åsa Makower, Erik Arnelöf, Gudrun Andersson, Jan Svartengren, Carina Ekholm, Stefan Svensson GeliusAbstractMucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) characterized by severe central nervous system (CNS) degeneration. The disease is caused by mutations in the SGSH gene coding for the lysosomal enzyme sulfamidase. Sulfamidase deficiency leads to accumulation of heparan ...
Source: Molecular Genetics and Metabolism Reports - September 8, 2019 Category: Genetics & Stem Cells Source Type: research

Response to comment on “High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders”
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Barry Wolf (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 7, 2019 Category: Genetics & Stem Cells Source Type: research

Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuck, Simon K. Law, Lorena Magraner-Pardo, Tirso Pons, Roman Polishchuck, Nicola Brunetti-PierriAbstractGeleophysic dysplasia (GPHYSD1, MIM231050; GPHYSD2, MIM614185; GPHYSD3, MIM617809) is an autosomal disorder characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, and laryngotracheal stenosis. Mutations in ADAMTSL2, FBN1, and LTBP3 genes are responsible for this condition. We found that three previously described cases of GPHYSD...
Source: Molecular Genetics and Metabolism Reports - September 5, 2019 Category: Genetics & Stem Cells Source Type: research

The CRISPR-Cas9 crADSL HeLa transcriptome: A first step in establishing a model for ADSL deficiency and SAICAR accumulation
We report transcriptome changes in genes relevant to development, vascular development, muscle, and cancer biology, which provide interesting avenues for future research. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 4, 2019 Category: Genetics & Stem Cells Source Type: research

An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Therese Conner, Francesca Cook, Vivian Fernandez, Vanessa Rangel-Miller (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 31, 2019 Category: Genetics & Stem Cells Source Type: research

A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences
ConclusionMost participants felt the burden of PKU on their daily lives, were dissatisfied with current treatments, and were willing to accept the risks of hypersensitivity reactions to achieve recommended blood Phe levels with pegvaliase treatment. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 31, 2019 Category: Genetics & Stem Cells Source Type: research

Hydrophobic sand is a viable method of urine collection from the rat for extracellular vesicle biomarker analysis
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Jessica F. Hoffman, Ivan J. Vechetti, Alexander P. Alimov, John F. Kalinich, John J. McCarthy, Charlotte A. PetersonAbstractPreviously we have shown in rats a new method of urine collection, hydrophobic sand, to be an acceptable alternate in place of the traditional method using metabolic cages. Hydrophobic sand is non-toxic, induces similar or lower levels of stress in the rat, and does not contaminate clinical urine markers nor metal concentrations in collected samples (Hoffman et al., 2017 and 2018). Urine is often used...
Source: Molecular Genetics and Metabolism Reports - August 23, 2019 Category: Genetics & Stem Cells Source Type: research

Infantile onset Pompe disease presenting with non-immune hydrops fetalis
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Kristen Lee, Rachel Fisher, Shane C. Quinonez, Ayesha Ahmad (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 23, 2019 Category: Genetics & Stem Cells Source Type: research

Comment on “High doses of biotin can interfere with immunoassays that use biotin-strept(avidin) technologies: Implications for individuals with biotin-responsive inherited metabolic disorders”
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Favresse Julien, Damien Gruson, Damien Gheldof (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - August 23, 2019 Category: Genetics & Stem Cells Source Type: research

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis
We describe a 7-year-old boy presenting with a developmental encephalopathy, severe epilepsy, retinopathy with salt and pepper fundus, and ultrastructural skin alterations resembling a neuronal ceroid lipofuscinosis. Whole exome-sequencing detected biallelic variants in the ADSL gene (c.65C > T [p.(Ala22Val)] and c.340 T > C [p.(Tyr114His)]). The increase of SAICAR and S-Ado in blood and urine was consistent with the pattern of adenylosuccinate lyase deficiency (OMIM 103050). An unusual increase of AICAR, that was due to a residual ADSL enzyme activity of about 28%, was also detected.Neither salt and pepper retin...
Source: Molecular Genetics and Metabolism Reports - August 23, 2019 Category: Genetics & Stem Cells Source Type: research

Expanding the clinical spectrum of MTTF mutations
We report on a de novo m.586G > A MTTF mutation in a 14 yrs old boy with non-progressive muscle weakness, myalgia, normal brain MRI, normal schooling and absent central nervous system involvement. The same m.586G > A MTTF mutation has been previously reported in a 57 yrs-old woman with a progressive neurodegenerative disorder, akinesia-rigidity, abnormal movements, dementia, and psychiatric disorder. Those two strikingly different clinical presentations emphasize the impact of either mitochondrial factors (heteroplasmy, mitotic segregation) or hitherto unknown nuclear factors on the clinical expression of genet...
Source: Molecular Genetics and Metabolism Reports - August 14, 2019 Category: Genetics & Stem Cells Source Type: research

Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Neil Smith, Nicola Longo, Keith Levert, Keith Hyland, Nenad BlauAbstractTetrahydrobiopterin (BH4) is a cofactor for the enzymes tyrosine hydroxylase and tryptophan hydroxylase, the rate-limiting enzymes in the production of the neurotransmitters, dopamine and serotonin, respectively, in the central nervous system (CNS). Administration of BH4 is used clinically within the management of persons with genetic BH4 deficiencies, but the BH4 molecule does not cross the blood-brain barrier sufficiently. CNSA-001 is a pharmaceutica...
Source: Molecular Genetics and Metabolism Reports - August 12, 2019 Category: Genetics & Stem Cells Source Type: research

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients
In conclusion, ETPKU cognitive outcome is influenced by a network of metabolic and environmental factors, which is not reflected by the sole metabolic control. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - July 27, 2019 Category: Genetics & Stem Cells Source Type: research