Posts By: Alina Levtova

Chitotriosidase and Gaucher disease severity and progression

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

van Dussen et al. Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. J Inherit Metab Dis. 2014 May 16. [Epub ahead of print] In a retrospective analysis of 80 patients with non-neuronopathic (type I) Gaucher disease, representing the majority of the cohort of such […]

Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease

Posted by & filed under Part 16: LYSOSOMAL DISORDERS, _.

Anderson LJ et al. Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study. J Inherit Metab Dis. 2014 Mar 18. [Epub ahead of print] In a longitudinal prospective and retrospective cohort study, Anderson et al investigated the effectiveness of enzyme replacement therapy in children with Gaucher disease. […]

RAF1 mutations as a cause of paediatric non-syndromic dilated cardiomyopathy

Posted by & filed under Part 23: CARDIOVASCULAR SYSTEM.

Dhandapany PS et al. RAF1 mutations in childhood-onset dilated cardiomyopathy. Nat Genet. 2014 Apr 28. doi: 10.1038/ng.2963. [Epub ahead of print]   Acting on the hypothesis that some of the genes involved in RASopathy-associated hypertrophic cardiomyopathy may also be implicated in isolated dilated cardiomyopathy, Dhandapany et al resequenced nine genes of the RAS-MAPK pathway in […]

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Posted by & filed under Part 28: NEUROGENETICS.

Nava C. et al. De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet. 2014 Apr 20. doi: 10.1038/ng.2952. [Epub ahead of print] Nava et al identify de novo heterozygous mutations in HCN1 as a new cause of  Dravet-like early infantile epileptic encephalopathy; the group used exome sequencing in parent-offspring trios with fever-sensitive, […]

Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism.

Posted by & filed under Part 09: ORGANIC ACIDS, _.

Pougovkina O et al. Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism. J Inherit Metab Dis. 2014 Feb 15. [Epub ahead of print]   An elegant study that formulates a new hypothesis for the role of aberrant acyl-CoA accumulation in disorders of acyl-CoA metabolism. Lysine acylation (in particular, acetylation) has […]

Mutation in DMD as a cause of non-specific X-linked intellectual disability without overt muscular dystrophy

Posted by & filed under Part 25: MUSCLE, Part 28: NEUROGENETICS, _.

de Brouwer et al. A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European Journal of Human Genetics (2014) 22, 480–485.   A very interesting observation, underlining the importance of dystrophin isoforms for the understanding of genotype-phenotype correlations in DMD-associated disorders. The authors describe a family with non-specific X-linked intellectual disability and no clinically observable […]

Yersinia pestis and the Plague of Justinian 541–543 AD: a genomic analysis

Posted by & filed under Historical perspectives, _.

Wagner DM et al. Yersinia pestis and the Plague of Justinian 541-543 AD: a genomic analysis. Lancet Infect Dis. 2014 Jan 27. pii: S1473-3099(13)70323-2. doi: 10.1016/S1473-3099(13)70323-2. [Epub ahead of print] In a fascinating study, Wagner et al explore the nature of the first plague pandemic (the Plague of Justinian, 6-8th centuries), and in particular its genetic relationship to the second and third pandemics (respectively, the Black death […]

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2

Posted by & filed under Part 28: NEUROGENETICS, _.

Feinstein M et al. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2. J Med Genet. 2014 Feb 27. doi: 10.1136/jmedgenet-2013-101823. [Epub ahead of print] Progressive cerebello-cerebral atrophy (PCCA), first described in 2003 in six Sephardi Jewish families, is a devastating autosomal recessive neurodegenerative condition presenting in childhood with psychomotor regression, acquired microcephaly, spastic quadriplegia and epilepsy. Neuroimaging […]

3-hydroxy-isobutyryl-CoA hydrolase deficiency causing deficiency of multiple mitochondrial respiratory chain enzymes and of the pyruvate dehydrogenase complex

Posted by & filed under Part 09: ORGANIC ACIDS, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, _.

Ferdinandusse S et al. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis. 2013 Dec 4;8:188.   Ferdinandusse et al describe two new patients (for a total of four patients described on the literature) with 3-hydroxy-isobutyryl-CoA hydrolase deficiency, a disorder of valine […]

A novel mechanism for mitochondrial toxicity of valproic acid

Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, _.

Luís PB et al (2013) Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases. J Inherit Metab Dis. 2013 Oct 24. [Epub ahead of print]   Luis et al propose a new mechanism for valproic acid-induced mitochondrial dysfunction, particularly in patients with deficiencies of the mtDNA replication machinery. Succinate:CoA ligase (SUCL), also known as […]