Alport syndrome (AS) is a hereditary disease affecting type IV collagen that is caused – in 80% of cases – by the COL4A5 gene. In 10% to 20% of AS cases, a mutation cannot be detected.
Recent findings have suggested glycosylated apolipoprotein J (ApoJ-Glyc) levels to be a marker for the diagnosis of myocardial ischemia. Analysis of this marker was performed in a cohort of patients with chest pain suggestive of acute coronary syndrome (ACS) (N=404). ApoJ-Glyc serum levels were analyzed with a novel ELISA assay that targets a specific glycosylated variant of ApoJ (ApoJ-GlycA6). It was found that 291 patients were diagnosed as having a nonischemic event, while 113 were classified as having an ischemic event, 33 as STEMI, 48 as non-STEMI, 27 as unstable angina pectoris and 5 as unclassifiable ACS patients.
Pegylated interferon-α (PegIFNα) is a treatment option for chronic hepatitis B (CHB) patients, but it often has undesirable side effects and not all patients respond to treatment. Tripartite motif-containing protein 26 (TRIM26) has been reported to have an impact on hepatitis C virus replication; researchers aimed to investigate the role of TRIM26 in CHB as well as its potential impact on response to PegIFNα in two cohorts of patients with CHB (N=945) treated for 48 weeks with a follow-up period of 24 weeks.
Biallelic mutations in the PYGM gene, which encodes for glycogen phosphorylase, cause McArdle disease, with a few cases documented to have hereditary macular dystrophies (HMDs) as an association. In the current study, a research team at the Hospital for Sick Children (SickKids), in Toronto, aimed to identify the disease-causing variants in an autosomal recessive family with HMD.
Primary angle closure glaucoma (PACG) is characterized by anatomic blockage of the drainage angle of the eye leading to elevated eye pressure and optic neuropathy, and its molecular pathogenesis is still not well studied.
Small nuclear RNAs (snRNAs) play a crucial role in RNA splicing and cell functioning. The transcription of these RNAs is initiated by small nuclear RNA activation protein complex (SNAPc), and SNAPC4 is the subunit in charge of SNAPc-DNA binding. Previous studies have found that SNAPC4 deficiency led to decreased expression of these RNAs in animal models.
Researchers from Children's Hospital Los Angeles presented data from a study that linked a homozygous missense mutation in ARSK to a new subtype of the lysosomal storage disease mucopolysaccharidoses (MPS).
Dimethylfumarate (DMF) is largely used for treating multiple sclerosis (MS), but about 61% of DMF-treated patients develop lymphopenia, with its consequent associated risks. Biomarkers for monitoring treatment efficacy with DMF in patients with MS would be helpful in this field.
Researchers from Bern University Hospital and University of Bern presented data from a case study that identified the presence of anti-neurochondrin antibodies as a potential biomarker of primary autoimmune cerebellar ataxia (PACA).
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