Nucleotides

Angiotensin II receptor blockers (ARBs) | Nucleotides

Sun, 09 Apr 2023 14:30:00 +0000

Angiotensin II receptor blockers (ARBs) are a class of antihypertensive medications that act on Angiotensin receptor I on vascular smooth muscles and adrenal glands, there by preventing the binding of Angiotensin II. This leads to a decrease in vasoconstriction and aldosterone production, which altogether results in reduced blood pressure.

ACE Inhibitors | Nucleotides

Sun, 02 Apr 2023 14:30:00 +0000

ACE inhibitors are a class of medicines used in the treatment of hypertension. They block angiotensin converting enzyme and prevent angiotensin II production, thereby decrease blood pressure. Dry cough, angioedema, hypotension and hyperkalemia are common side effects of ACE inhibitors.

Friedreich’s Ataxia | Nucleotides

Sat, 25 Mar 2023 14:30:00 +0000

Friedreich’s ataxia is an autosomal recessive condition caused due to expanded GAA repeats in the FXN gene present on chromosome 9.

Gaucher Disease | Nucleotides

Sat, 11 Mar 2023 14:30:00 +0000

Gaucher disease is an autosomal recessive condition wherein there is decreased glucocerebrosidase levels. This results in the build up of glucocerebroside in the lysosomes of macrophages which in turn accumulates in several tissues, causing damage to it.

Albinism | Nucleotides

Sat, 25 Feb 2023 14:30:00 +0000

Albinism is a recessive genetic disorder caused by mutation in the genes of any enzyme or protein taking part in melanin production. This condition causes a decrease or absence of melanin pigment, resulting in decreased skin, hair and eye pigmentation which is manifested as white to gray hair, milky white skin and very light blue or translucent irises.

Von-Hippel Lindau Disease | Nucleotides

Sat, 18 Feb 2023 14:30:00 +0000

Von Hippel Lindau disease is an autosomal dominant genetic condition caused by mutation in the VHL gene found on chromosome number 3. This results in increased levels of HIF, platelet-derived and vascular endothelial growth factors, causing tumor development.

Tay-Sachs Disease | Nucleotides

Sat, 11 Feb 2023 14:30:00 +0000

Tay-Sachs disease is a rare autosomal recessive condition that results from a mutation in HEX-A gene on chromosome 15 that leads to GM2 ganglioside build up within lysosomes in the neurons of CNS resulting in progressive symptoms of CNS degeneration including visual problems, hypotonia and seizures.

Fabry Disease | Nucleotides

Sat, 04 Feb 2023 14:30:00 +0000

Fabry disease is a rare genetic disorder that affects the X chromosome. It is caused by mutation in the GLA gene resulting in decreased alpha galactosidase A enzyme or alpha-gal A, leading to the buildup of large glycosphingolipids like Globotriaosylceramide (GL3) in lysosomes.

Turner Syndrome | Nucleotides

Sat, 28 Jan 2023 14:30:00 +0000

Turner syndrome is a chromosomal disorder in females wherein there is either one fully or partially absent X chromosome. The common characteristics of Turner syndrome are short stature, streak ovaries, neck webbing, lymphedema, congenital heart and renal anomalies. Treatment includes growth hormone and sex hormone replacement therapy.

Wiskott-Aldrich Syndrome | Nucleotides

Sat, 21 Jan 2023 14:30:00 +0000

Wiskott-Aldrich syndrome is an immune system disorder which is inherited in an X-linked recessive way and it most often affects men. The standard triad of symptoms are microthrombocytopenia, repeated infections and eczema. The treatment is concentrated on controlling symptoms and the likely curative treatment now is hematopoietic stem cell transplantation.

Klinefelter's Syndrome | Nucleotides

Sat, 14 Jan 2023 14:30:00 +0000

Klinefelter's syndrome is a genetic or chromosomal abnormality in which a male with XY genotype inherits at the minimum or sometimes more than one extra X-chromosome. It results in decreased testosterone levels and increased luteinizing and follicle stimulating hormones, all resulting in male infertility and feminine physical characteristics.

Zellweger Spectrum Disorders | Nucleotides

Sat, 07 Jan 2023 14:30:00 +0000

Zellweger Spectrum Disorders or ZSDs are referred to as a group of rare genetic diseases that impairs development of peroxisomes. It impairs the functioning of peroxisomes leading to very-long-chain fatty acids build up and nerve degeneration, causing multiple system complications.

Marfan Syndrome | Nucleotides

Sat, 31 Dec 2022 14:30:00 +0000

Marfan syndrome is referred to as a rare genetic condition in which there is a malfunctioned connective tissue affecting an individual’s heart, blood vessels, skeleton, eyes and lungs.

Adrenoleukodystrophy | Nucleotides

Sat, 24 Dec 2022 14:30:00 +0000

Adrenoleukodystrophy or ALD is a rare genetic disorder caused by mutation in the ABCD1 gene located in the X-chromosome that results in a progressive loss of white matter in the nervous system and degradation of adrenal glands.

Horner's Syndrome | Nucleotides

Sat, 17 Dec 2022 14:30:00 +0000

Horner’s syndrome named after the Swiss Ophthalmologist Johann Friedrich Horner happens due to error occurring in sympathetic nerve supply towards one side of the face.

Alport Syndrome | Nucleotides

Sat, 10 Dec 2022 14:30:00 +0000

Alport syndrome occurs due to mutations in COL4A3,4 and 5 genes that encode for collagen type IV alpha subunits 3, 4 and 5 causing kidney issues like hematuria, glomerulonephritis, inner ear problems like sensorineural hearing loss and eye problems like anterior lenticonus.

Lesch-Nyhan Syndrome | Nucleotides

Sat, 03 Dec 2022 14:26:00 +0000

Lesch-Nyhan syndrome is an X-linked recessive condition caused by mutation in the HGPRT gene that is located on the X chromosome and it blocks the purine salvage pathway. End result is hyperuricemia and hyperuricosuria leading to kidney stones, gouty arthritis, neurological and behavioral problems.