Synonymous or silent mutations do not change the sequence of the protein that they encode. With some exceptions, they do not trigger any effect. Last year, however, a study by researchers from the University of Michigan tried to refute this concept after finding that they altered the protein function. But breaking dogmas can have answers. A group of scientists from various institutions has found that this work could have a method error.
The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy. Scientists from the Broad Institute in Boston and The Ohio State University reversed the mutation using the base editing technique.
The editing in human cells and in mice of the survival motor neuron 1 gene (SMN1) restored the levels of SMN protein that the mutation of the SMN2 gene produces in spinal muscular atrophy (SMA). Scientists from the Broad Institute in Boston and The Ohio State University reversed the mutation using the base editing technique. “This base editing approach to treating SMA should be applicable to all SMA patients, regardless of the specific mutation that caused their SMN1 loss,” the lead author David Liu, a professor and director of the Merkin Institute of Transformative Technologies in Healthcare at the Broad Institute of Harvard and MIT, told BioWorld.
Liver glycogen storage disease type IX (GSD IX) accounts for 25% for all GSD cases, with a prevalence of 1 out of 100,000 patients. GSD IX is caused by deficiency in phosphorylase kinase (PhK), which is comprised of four subunits (α2, β, δ and γ2), with γ2 being the catalytic domain.
Phenylketonuria (PKU) is an autosomal recessive disorder where the primary catabolic pathway for phenylalanine (Phe) is disrupted due to mutations in the gene encoding PAH. Elevated Phe levels lie behind several neuropathologic anomalies that can lead to severe and irreversible mental retardation, if untreated.
Genome sequencing is a successful approach for simultaneously detecting both copy number variants and sequence variants in genes involved in autosomal recessive diseases.
Geleophysic dysplasia (GD) is an autosomal recessive disease characterized by facial features, short stature, limited joint mobility and cardiovascular and respiratory abnormalities, which can lead to a significant mortality rate. The disease is caused by biallelic genetic variants in the ADAMTSL2 gene. Little is known about the pathogenesis of the disease, but dysregulation of the TGF-β pathway has been shown to be involved.
Researchers from the University of Utah applied RNASeq analysis for an undiagnosed case of a critically ill newborn with a complex phenotype, with the aim of providing better diagnosis and improving treatment outcomes.
By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.
Investigators from the Thomas Jefferson University have presented a case report of a 27-year-old pregnant patient in whom cystic hygroma, extensive anasarca, bilateral pleural effusions, ascites, abnormally curved sacrum and hydrocephalus with parenchymal volume loss, among others were detected by prenatal imaging during pregnancy (onset was at about 21 weeks of gestation).
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