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Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Monilethrix: a rare hereditary condition.

Adaikalampillai Ganapathy Vikramkumar1, Sheela Kuruvila, Satyaki Ganguly

  • 1Department of Dermatology, Venereology and Leprosy, Pondicherry Institute of Medical Sciences, Pondicherry, India.

Indian Journal of Dermatology
|June 1, 2013
PubMed
Summary
This summary is machine-generated.

Monilethrix, a rare genetic hair disorder, presents challenges in treatment. A case study explored N-acetyl cysteine, showing slight hair improvement but no significant density increase, highlighting ongoing therapeutic difficulties.

Keywords:
Hair shaft defectsMonilethrixN-acetylcysteine

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Published on: October 20, 2019

Area of Science:

  • Genetics
  • Dermatology
  • Pharmacology

Background:

  • Monilethrix is a rare autosomal-dominant hereditary hair disorder.
  • Variable penetrance complicates its clinical presentation and inheritance patterns.

Purpose of the Study:

  • To report a case of monilethrix in a pediatric patient with a family history.
  • To evaluate the efficacy of N-acetyl cysteine as a therapeutic agent for monilethrix.

Main Methods:

  • A 13-year-old boy with monilethrix and an affected sibling was treated with oral N-acetyl cysteine.
  • Clinical observation and hair density assessment were conducted over a 2-month period.

Main Results:

  • Slight improvement in hair condition was observed after 2 months of N-acetyl cysteine therapy.
  • No significant improvement in overall hair density was noted subsequently.

Conclusions:

  • N-acetyl cysteine may offer marginal benefits in managing monilethrix symptoms.
  • Monilethrix continues to pose a significant therapeutic challenge for dermatologists, necessitating further research into effective treatments.