Synaptic Vesicle Glycoprotein 2C: a role in Parkinson's disease.

Synaptic Vesicle Glycoprotein 2C (SV2C), characterized by its selective expression in discrete brain regions such as the midbrain, has recently emerged as a promising player in Parkinson's Disease (PD) - a debilitating neurodegenerative disorder affecting millions worldwide. This review aims to consolidate our current understanding of SV2C's function, its involvement in PD pathogenesis, and to evaluate its potential as a therapeutic target. Integrating previous findings of SV2C, from genetics to molecular studies, and drawing on insights from the largest East Asian genome-wide association study that highlights as a novel risk factor for PD, we explore the potential pathways through which SV2C may influence the disease.

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in in a Kashmiri Family with Bardet-Biedl Syndrome.

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive inherited disorder with distinctive clinical feature such as obesity, degeneration of retina, polydactyly, and renal abnormalities. The study was aimed at finding out the disease-causing variant/s in patients exhibiting clinical features of BBS.

Methods: The identification of disease-causing variant was done by using whole exome sequencing on Illumina HiSeq 4000 platform involving the SeqCap EZ Exome v3 kit (Roche NimbleGen).

Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.

Background: Congenital atrichia (CA) is a rare form of irreversible alopecia with an autosomal recessive mode of inheritance. This form of hair loss is mainly associated with mutations in the human hairless (HR) gene located at chromosome 8p21.3.