Among different types of dyslipidemia, familial combined hyperlipidemia (FCHL) is the most common genetic disorder, which is characterized by at least two different forms of lipid abnormalities: hypercholesterolemia and hypertriglyceridemia. FCHL is an important cause of cardiovascular diseases. FCHL is a heterogeneous condition linked with some metabolic defects that are closely associated with FCHL. These metabolic features include dysfunctional adipose tissue, delayed clearance of triglyceride-rich lipoproteins, overproduction of very low-density lipoprotein and hepatic lipids, and defect in the clearance of low-density lipoprotein particles. There are also some genes associated with FCHL such as those affecting the metabolism and clearance of plasma lipoprotein particles. Due to the high prevalence of FCHL especially in cardiovascular patients, targeted treatment is ideal but this necessitates identification of the genetic background of patients. This review describes the metabolic pathways and associated genes that are implicated in FCHL pathogenesis. We also review existing and novel treatment options for FCHL. © 2019 IUBMB Life, 71(9):1221-1229, 2019.
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http://dx.doi.org/10.1002/iub.2073 | DOI Listing |
Hum Genet
January 2025
Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro-Ku, Tokyo, 152-8902, Japan.
There are hundreds of rare syndromic diseases involving hearing loss, many of which are not targeted for clinical genetic testing. We systematically explored the genetic causes of undiagnosed syndromic hearing loss using a combination of whole exome sequencing (WES) and a phenotype similarity search system called PubCaseFinder. Fifty-five families with syndromic hearing loss of unknown cause were analyzed using WES after prescreening of several deafness genes depending on patient clinical features.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
Background: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Molecular Life Sciences, University of Zurich, Zurich, Switzerland.
Nuclear speckles are membraneless organelles that associate with active transcription sites and participate in post-transcriptional mRNA processing. During the cell cycle, nuclear speckles dissolve following phosphorylation of their protein components. Here, we identify the PP1 family as the phosphatases that counteract kinase-mediated dissolution.
View Article and Find Full Text PDFBMC Infect Dis
January 2025
Center for Global Health Research, Saveetha Institute of Medical and Technical Sciences, Saveetha Medical College and Hospital, Saveetha University, Chennai, India.
Background: Tuberculosis (TB) remains a significant health concern in India, especially among households with children and young adolescents aged 6-17 years. Despite ongoing research, there is a knowledge gap regarding specific risk factors for TB within this demographic. This study aims to bridge this gap by examining the association between TB and various socio-demographic factors, including socioeconomic status, nutritional status, and environmental conditions.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Endocrinology, Government Medical College Thiruvananthapuram, Thiruvananthapuram, Kerala, India.
We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps.
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