JoVE - Journal of Visualized Experiments
JoVE Visualize
Contact Us

TPC2: From Blond Hair to Melanoma?

  • 0Walther Straub Institute of Pharmacology and Toxicology, Faculty of Medicine, Ludwig Maximilians University, 80336 Munich, Germany.
Cancers +

|

December 17, 2024

|

December 17, 2024

View abstract on PubMed

Summary

This summary is machine-generated.

Two-pore channel 2 (TPC2) affects skin and hair pigmentation. Its dysfunction can increase melanin production and reduce melanoma risk factors, offering potential therapeutic avenues.

Area Of Science

  • Cell Biology
  • Genetics
  • Dermatology

Background

  • Two-pore channel 2 (TPC2) is present in human endolysosomes and melanocyte melanosomes.
  • Melanin, produced by melanocytes, dictates skin/hair color and UV protection.
  • UV exposure is a key risk factor for melanoma, originating from melanocytes.

Purpose Of The Study

  • To investigate the role of TPC2 in pigmentation.
  • To explore TPC2's impact on melanoma development and progression.
  • To highlight TPC2's interaction with Rab7a.

Main Methods

  • Analysis of TPC2 gene variants and their functional effects.
  • Examination of TPC2's influence on melanin production.
  • Review of TPC2's role in cancer hallmarks (proliferation, migration, invasion, metastasis).

Main Results

  • TPC2 gain-of-function variants are linked to blond hair and hypopigmentation.
  • TPC2 loss-of-function enhances melanin production.
  • Reduced TPC2 activity correlates with decreased melanoma hallmarks.

Conclusions

  • TPC2 activity is a critical regulator of pigmentation.
  • Dysfunctional TPC2 can inhibit melanoma progression.
  • Rab7a acts as an enhancer of TPC2 activity, suggesting novel therapeutic targets.

Keywords:

Related Concept Videos

Skin Cancer 01:30

3.1K

Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...

Pigmentation 01:19

2.3K

The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...

Changes in Skin Color: Clinical Perspectives 01:14

1.7K

The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...

Correlation and Causation 01:27

37.4K

Statistical tests can calculate whether there is a relationship, or correlation, between independent and dependent variables. An indirect relationship of the variables signifies a correlation, while a direct relationship shows causation. If it is determined that no connection exists between the variables, then the correlation is a coincidence.
Correlation versus Causation
If the dependent variable increases or decreases when the independent variable increases, there is a positive or negative...

The Retinoblastoma Gene 01:20

4.0K

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

Cancer Prevention 02:59

6.0K

Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...