How Do You Spell BESTROPHIN MUTATION?

Pronunciation: [bɪstɹˈɒfɪn mjuːtˈe͡ɪʃən] (IPA)

The term "bestrophin mutation" is used in genetics to refer to a genetic disorder that affects the retina of the eye. The word is pronounced /bɛstɹəfɪn mjuːˈteɪʃən/ in IPA phonetic transcription, with the stress on the second syllable. The spelling of "bestrophin" comes from the protein of the same name that is affected by the mutation. The mutation can cause a variety of symptoms, including impaired vision, macular degeneration, and even blindness. It is important to identify and diagnose bestrophin mutations early to prevent or manage these symptoms.

BESTROPHIN MUTATION Meaning and Definition

1. Bestrophin mutation refers to a genetic alteration or variation in the bestrophin gene, specifically the BEST1 gene, that is associated with certain inherited retinal disorders, specifically Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). Bestrophin mutations result in the production of a dysfunctional bestrophin protein, an integral part of the retinal pigment epithelium (RPE) that is crucial for normal vision.

   The bestrophin gene codes for a protein called bestrophin-1, which is responsible for regulating the flow of chloride ions across the RPE. The RPE plays a crucial role in maintaining the health and function of the photoreceptor cells in the retina. Mutations in the BEST1 gene lead to aberrant chloride ion transport, disruption of normal cellular functions, and subsequent accumulation of fluid and debris between the RPE and photoreceptor layers in the macula, resulting in vision impairment.

   Symptoms associated with bestrophin mutations include central vision loss, blurred vision, distorted vision, and impaired color perception. The severity and age of onset vary depending on the specific mutation and individual factors. Bestrophin mutations are typically inherited in an autosomal dominant pattern, although autosomal recessive forms have also been identified.

   Diagnostic tests can detect bestrophin mutations and aid in confirming the presence of inherited retinal disorders, providing patients with an accurate diagnosis. Although there is no cure for bestrophin mutation-related retinal disorders, management focuses on symptom relief and preventing further visual deterioration through close monitoring, regular eye examinations, low-vision aids, and genetic counseling.

Common Misspellings for BESTROPHIN MUTATION

• vestrophin mutation
• nestrophin mutation
• hestrophin mutation
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• besyrophin mutation

Etymology of BESTROPHIN MUTATION

The term "bestrophin mutation" is composed of two components: "bestrophin" and "mutation".

1. Bestrophin: The word "bestrophin" is derived from the name of the protein "Bestrophin-1", which is encoded by the BEST1 gene. Bestrophin-1 is primarily expressed in the retinal pigment epithelium (RPE) and is involved in maintaining the normal function of the retina.

2. Mutation: The term "mutation" refers to a change or alteration in the DNA sequence of a gene. In the context of "bestrophin mutation", it specifically signifies a genetic alteration or mutation within the BEST1 gene, leading to a change in the function or structure of the Bestrophin-1 protein.

Plural form of BESTROPHIN MUTATION is BESTROPHIN MUTATIONS